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 (, 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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