ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val)

gnomAD frequency: 0.00003  dbSNP: rs1055918734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331003 SCV001522886 uncertain significance Cohen syndrome 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004743409 SCV005360920 uncertain significance VPS13B-related disorder 2024-09-14 no assertion criteria provided clinical testing The VPS13B c.5270C>T variant is predicted to result in the amino acid substitution p.Ala1757Val. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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