ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.2471C>T (p.Ser824Phe) (rs145419141)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726533 SCV000345300 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000283079 SCV000597879 uncertain significance not specified 2016-12-30 criteria provided, single submitter clinical testing
Invitae RCV000792079 SCV000931352 uncertain significance Cohen syndrome 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 824 of the VPS13B protein (p.Ser824Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs145419141, ExAC 0.02%). This variant has not been reported in the literature in individuals with VPS13B-related disease. ClinVar contains an entry for this variant (Variation ID: 290694). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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