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

Total submissions: 2

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.
Labcorp Genetics (formerly Invitae), Labcorp	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).