ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs)

dbSNP: rs1787039042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997151 SCV002237333 pathogenic not provided 2022-05-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SEC63-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val398Thrfs*4) in the SEC63 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SEC63 are known to be pathogenic (PMID: 20095989, 28375157).
Fulgent Genetics, Fulgent Genetics RCV002497853 SCV002805411 likely pathogenic Polycystic liver disease 2 2021-09-23 criteria provided, single submitter clinical testing

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