ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042830 SCV001206535 pathogenic ALG9 congenital disorder of glycosylation 2019-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser355Leufs*78) in the ATP6V0A2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cutis laxa (PMID: 19321599). This variant is also known as 1058_1059insC in the literature. Loss-of-function variants in ATP6V0A2 are known to be pathogenic (PMID: 18157129, 19321599). For these reasons, this variant has been classified as Pathogenic.

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