ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)

dbSNP: rs2077419354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV001255949 SCV001432654 pathogenic Hypercholesterolemia, familial, 1 2019-03-13 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001879948 SCV002234159 pathogenic Familial hypercholesterolemia 2022-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val498Leufs*37) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 977993). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 31345425).
PreventionGenetics, part of Exact Sciences RCV003405465 SCV004106774 pathogenic LDLR-related disorder 2023-03-24 criteria provided, single submitter clinical testing The LDLR c.1492_1493delGT variant is predicted to result in a frameshift and premature protein termination (p.Val498Leufs*37). This variant has been reported in at least one individual with Familial Hypercholesterolemia (Trinder et al. 2019. PubMed ID: 31345425. Online Table 3). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in LDLR are expected to be pathogenic. This variant is interpreted as pathogenic.

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