ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1631T>C (p.Met544Thr)

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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 RCV004744991 SCV005360529 uncertain significance VPS13B-related disorder 2024-04-03 no assertion criteria provided clinical testing The VPS13B c.1631T>C variant is predicted to result in the amino acid substitution p.Met544Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) 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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