Variant: NM_000527.4(LDLR):c.-97G>A

CA305287338

430743 (ClinVar)

Gene: N/A

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

UUID: 76d55e8f-12cb-4c61-b565-dd73f7cf96fb

HGVS expressions

NM_000527.4(LDLR):c.-97G>A
NC_000019.10:g.11089452G>A
CM000681.2:g.11089452G>A
NC_000019.9:g.11200128G>A
CM000681.1:g.11200128G>A
NC_000019.8:g.11061128G>A
NG_009060.1:g.5072G>A
ENST00000558518.5:c.-97G>A
NM_000527.4:c.-97G>A
NM_001195798.1:c.-97G>A
NM_001195799.1:c.-97G>A
NM_001195800.1:c.-97G>A
NM_001195803.1:c.-97G>A
NR_163945.1:n.208C>T

Uncertain Significance

• Met criteria codes: PS4_Supporting PP4 PM2

• Not Met criteria codes: PP1

Expert Panel

Familial Hypercholesterolemia VCEP

Criteria Specification Information

Evidence submitted by expert panel

Familial Hypercholesterolemia VCEP

The NM_000527.4(LDLR):c.-97G>A is a LDLR-AS1 Non Coding Transcript Variant and is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes PM2 and BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follow: PM2_Met : absent from controls in GnomAD (gnomAD v2.1.1). PP4_Met : 1 index case with Dutch lipid clinic network >=6 PS4_supporting: variant met PM2 and was found in 1 index case with Dutch lipid clinic network >=6 (sequenced by progenica) from M.Arca Lab and 1 patient from Lille University & CHRU Lille (ClinVar entry) with Dutch Lipid Clinic Scoring of Probable FH

Met criteria codes

• PS4_Supporting: variant met PM2 and was found in 1 index case with Dutch lipid clinic network >=6 (sequenced by progenica) from M.Arca Lab and 1 patient from Lille University & CHRU Lille (ClinVar entry) wiìth Dutch Lipid Clinic Scoring of Probable FH
• PP4: 1 index case with Dutch lipid clinic network >=6
• PM2: absent from controls in GnomAD (gnomAD v2.1.1).

Not Met criteria codes

• PP1: the variant does not segregate with disease. The variant was assessed only in one relative without the phenotype in whom the variant was not found.

Approved on: 2022-08-29

Published on: 2022-12-23