ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly)

gnomAD frequency: 0.00004  dbSNP: rs1288339042
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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 RCV001041724 SCV001205355 uncertain significance Cohen syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1624 of the VPS13B protein (p.Asp1624Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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: 839866). 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: "Probably 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.
GeneDx RCV001759742 SCV001994918 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003307823 SCV003989400 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.4871A>G (p.D1624G) alteration is located in exon 31 (coding exon 30) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 4871, causing the aspartic acid (D) at amino acid position 1624 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001041724 SCV002082556 uncertain significance Cohen syndrome 2020-10-12 no assertion criteria provided clinical testing

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