ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe)

dbSNP: rs984666923
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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 RCV001295508 SCV001484433 uncertain significance Cohen syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2718 of the VPS13B protein (p.Leu2718Phe). This variant is not present in population databases (gnomAD no frequency). 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: 999499). 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"). 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.
Ambry Genetics RCV002418886 SCV002680316 uncertain significance Inborn genetic diseases 2020-03-30 criteria provided, single submitter clinical testing The p.L2718F variant (also known as c.8152C>T), located in coding exon 43 of the VPS13B gene, results from a C to T substitution at nucleotide position 8152. The leucine at codon 2718 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001295508 SCV002082666 uncertain significance Cohen syndrome 2020-02-13 no assertion criteria provided clinical testing

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