ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.238del (p.Val80fs)

dbSNP: rs1644614862
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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 RCV001248503 SCV001421992 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2019-10-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PCSK9 cause disease. This variant has not been reported in the literature in individuals with PCSK9-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val80Trpfs*3) in the PCSK9 gene. It is expected to result in an absent or disrupted protein product.

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