ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003412555 SCV004123238 uncertain significance Cohen syndrome 2023-08-10 criteria provided, single submitter clinical testing The VPS13B c.3767T>G, p.(Met1256Arg) missense variant has been reported in the literature in one individual (PMID: 30792901). This variant has not been observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest that the variant may not impact the gene or gene product. Based on the available evidence, the c.3767T>G, p.(Met1256Arg) variant is classified as a variant of uncertain significance for Cohen syndrome.

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