ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly)

dbSNP: rs905918713
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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 RCV001937213 SCV002136699 uncertain significance Cohen syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 1812 of the VPS13B protein (p.Ser1812Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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 RCV004686696 SCV005174723 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.5434A>G (p.S1812G) alteration is located in exon 34 (coding exon 33) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 5434, causing the serine (S) at amino acid position 1812 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004743609 SCV005358025 uncertain significance VPS13B-related disorder 2024-03-13 no assertion criteria provided clinical testing The VPS13B c.5359A>G variant is predicted to result in the amino acid substitution p.Ser1787Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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