ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser)

gnomAD frequency: 0.00003  dbSNP: rs966152558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279389 SCV001466484 uncertain significance Cohen syndrome 2020-08-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743381 SCV005343738 uncertain significance VPS13B-related disorder 2024-08-02 no assertion criteria provided clinical testing The VPS13B c.5072C>G variant is predicted to result in the amino acid substitution p.Thr1691Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African 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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