ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr)

dbSNP: rs1464523452
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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 RCV001044402 SCV001208198 uncertain significance Cohen syndrome 2022-06-28 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: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 842056). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 3711 of the VPS13B protein (p.Ser3711Tyr).
Natera, Inc. RCV001044402 SCV002082778 uncertain significance Cohen syndrome 2020-08-17 no assertion criteria provided clinical testing

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