ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp)

gnomAD frequency: 0.00004  dbSNP: rs781460252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036529 SCV001199897 uncertain significance Cohen syndrome 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2303 of the VPS13B protein (p.Arg2303Trp). This variant is present in population databases (rs781460252, gnomAD 0.008%). 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: 835606). 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.
GeneDx RCV002511019 SCV002820563 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002551360 SCV003547650 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.6907C>T (p.R2303W) alteration is located in exon 38 (coding exon 37) of the VPS13B gene. This alteration results from a C to T substitution at nucleotide position 6907, causing the arginine (R) at amino acid position 2303 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001036529 SCV001460396 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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