ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.10818_10821del (p.Gly3607fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003420907 SCV004118666 likely pathogenic VPS13D-related disorder 2023-07-26 criteria provided, single submitter clinical testing The VPS13D c.10818_10821delGGGA variant is predicted to result in a frameshift and premature protein termination (p.Gly3607Glnfs*29). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in VPS13D are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Invitae RCV003669414 SCV004392402 pathogenic not provided 2023-04-19 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 VPS13D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly3607Glnfs*29) in the VPS13D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13D are known to be pathogenic (PMID: 29518281).

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