ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis)

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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 RCV003605541 SCV004469071 uncertain significance Cohen syndrome 2023-01-20 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.8550_8552delinsTCA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the VPS13B protein (p.Arg2850_Ser2851delinsSerHis).

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