ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe)

dbSNP: rs376044341
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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 RCV000821704 SCV000962473 uncertain significance Cohen syndrome 2018-10-07 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with VPS13B-related disease. This variant is present in population databases (rs376044341, ExAC 0.001%). This sequence change replaces serine with phenylalanine at codon 870 of the VPS13B protein (p.Ser870Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. 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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