ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met)

gnomAD frequency: 0.00004  dbSNP: rs778388170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899564 SCV002146740 uncertain significance Cohen syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1195 of the VPS13B protein (p.Thr1195Met). This variant is present in population databases (rs778388170, 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: 1371408). 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.
PreventionGenetics, part of Exact Sciences RCV004743615 SCV005346746 uncertain significance VPS13B-related disorder 2024-05-09 no assertion criteria provided clinical testing The VPS13B c.3584C>T variant is predicted to result in the amino acid substitution p.Thr1195Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. 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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