ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala)

dbSNP: rs1833106696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307068 SCV001496461 uncertain significance Cohen syndrome 2021-08-27 criteria provided, single submitter clinical testing This variant, c.7037_7038delinsCG, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the VPS13B protein (p.Val2346Ala). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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