Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs)

CA10588898

265904 (ClinVar)

Gene: LDLR (HGNC:3949)

Condition: hypercholesterolemia, familial (MONDO:0007750)

Inheritance Mode: Semidominant inheritance

UUID: cf82bec2-5833-4b2a-a05a-5caef8898450

Approved on: 2026-01-23

Published on: 2026-02-02

HGVS expressions

NM_000527.5:c.1830_1839del

NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs)

NC_000019.10:g.11116983_11116992del

CM000681.2:g.11116983_11116992del

NC_000019.9:g.11227659_11227668del

CM000681.1:g.11227659_11227668del

NC_000019.8:g.11088659_11088668del

NG_009060.1:g.32603_32612del

ENST00000252444.10:c.2088_2097del

ENST00000559340.2:c.1705+771_1705+780del

ENST00000560467.2:c.1710_1719del

ENST00000558518.6:c.1830_1839del

ENST00000252444.9:c.2084_2093del

ENST00000455727.6:c.1326_1335del

ENST00000535915.5:c.1707_1716del

ENST00000545707.5:c.1449_1458del

ENST00000557933.5:c.1830_1839del

ENST00000558013.5:c.1830_1839del

ENST00000558518.5:c.1830_1839del

ENST00000559340.1:c.426+771_426+780del

NM_000527.4:c.1830_1839del

NM_001195798.1:c.1830_1839del

NM_001195799.1:c.1707_1716del

NM_001195800.1:c.1326_1335del

NM_001195803.1:c.1449_1458del

NM_001195798.2:c.1830_1839del

NM_001195799.2:c.1707_1716del

NM_001195800.2:c.1326_1335del

NM_001195803.2:c.1449_1458del

Likely Pathogenic

PVS1 PM2

BS1 BA1 PP4

Evidence Links 0

Expert Panel

Familial Hypercholesterolemia VCEP

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Familial Hypercholesterolemia VCEP

The NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs) variant is classified as Likely Pathogenic for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PVS1 and PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on January 23, 2026. The supporting evidence is as follows: PM2: This variant is absent from gnomAD (gnomAD v4.1.0). PVS1: Variant is frameshift causing a premature stop codon amino-terminal of amino acid 830.

PVS1

Variant is frameshift causing a premature stop codon amino-terminal of amino acid 830.

PM2

This variant is absent from gnomAD (gnomAD v4.1).

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PP4

No case/Segregation available

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.