ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)

dbSNP: rs1554581267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667350 SCV000791784 likely pathogenic Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000667350 SCV001584717 pathogenic Cohen syndrome 2020-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 552135). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu3414Hisfs*27) in the VPS13B gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV003420178 SCV004114259 likely pathogenic VPS13B-related disorder 2022-10-21 criteria provided, single submitter clinical testing The VPS13B c.10166_10167delTC variant is predicted to result in a frameshift and premature protein termination (p.Leu3389Hisfs*27). To our knowledge, this variant has not been reported in the literature, but it has been interpreted as likely pathogenic or pathogenic in the ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/552135/). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in VPS13B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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