ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)

dbSNP: rs879255095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237382 SCV000295790 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV003581636 SCV004297871 pathogenic Familial hypercholesterolemia 2023-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function. ClinVar contains an entry for this variant (Variation ID: 252144). This missense change has been observed in individuals with autosomal dominant familial hypercholesterolemia (PMID: 17347910, 24785115). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 660 of the LDLR protein (p.Gln660Arg).

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