ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile)

dbSNP: rs1441125749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804282 SCV000944185 uncertain significance Cohen syndrome 2022-08-16 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. 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 649364). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1280 of the VPS13B protein (p.Ser1280Ile).
Natera, Inc. RCV000804282 SCV001466480 uncertain significance Cohen syndrome 2020-08-13 no assertion criteria provided clinical testing

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