ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly)

dbSNP: rs1563492523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317964 SCV000849497 uncertain significance Inborn genetic diseases 2017-05-23 criteria provided, single submitter clinical testing The p.D3107G variant (also known as c.9320A>G), located in coding exon 50 of the VPS13B gene, results from an A to G substitution at nucleotide position 9320. The aspartic acid at codon 3107 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862051 SCV002174980 uncertain significance Cohen syndrome 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3107 of the VPS13B protein (p.Asp3107Gly). 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: 589020). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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