ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6572C>T (p.Ala2191Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004744785 SCV005359605 uncertain significance VPS13B-related disorder 2024-05-31 no assertion criteria provided clinical testing The VPS13B c.6572C>T variant is predicted to result in the amino acid substitution p.Ala2191Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. 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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