ClinVar Miner

Submissions for variant NC_000009.12:g.77337257_77337282del

dbSNP: rs1174858706
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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 RCV001389797 SCV001591276 pathogenic not provided 2017-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13A are known to be pathogenic (PMID: 12404112, 21598378). This variant has not been reported in the literature in individuals with VPS13A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser2033*) in the VPS13A gene. It is expected to result in an absent or disrupted protein product.

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