ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)

dbSNP: rs879254498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238243 SCV000294666 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455754 SCV000539520 uncertain significance not specified 2016-10-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is in exon 4a of LDLR. It has been reported in one family with FH but was only present in the proband. It is present in ClinVar with 1 star as Likely Pathogenic by the British Heart Foundation (citing paper above). It is not present in ExAC. It has been seen as a somatic variant in one malignant melanoma tumor.
Natera, Inc. RCV001833251 SCV002086365 uncertain significance Familial hypercholesterolemia 2020-02-25 no assertion criteria provided clinical testing

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