ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu)

dbSNP: rs747116389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338892 SCV001532597 uncertain significance Cohen syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 2102 of the VPS13B protein (p.Arg2102Leu). This variant is present in population databases (rs747116389, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035950). 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: "Benign"; Align-GVGD: "Not Available"). 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.
Natera, Inc. RCV001338892 SCV002082605 uncertain significance Cohen syndrome 2020-09-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003898320 SCV004714412 uncertain significance VPS13B-related disorder 2024-08-27 no assertion criteria provided clinical testing The VPS13B c.6230G>T variant is predicted to result in the amino acid substitution p.Arg2077Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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