ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.17G>A (p.Trp6Ter)

dbSNP: rs2077057318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001999714 SCV002232683 pathogenic Familial hypercholesterolemia 2021-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp6*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 28964736, 32041611, 33303402). This variant is not present in population databases (gnomAD no frequency).

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