ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002976116 SCV003288046 likely benign Cohen syndrome 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744514 SCV005358669 uncertain significance VPS13B-related disorder 2023-11-21 no assertion criteria provided clinical testing The VPS13B c.9585G>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual plus v1.6.1). However, such computer prediction programs are imperfect. 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. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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