ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala)

gnomAD frequency: 0.00001  dbSNP: rs376964635
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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 RCV001302715 SCV001491935 uncertain significance Cohen syndrome 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 3593 of the VPS13B protein (p.Val3593Ala). This variant is present in population databases (rs376964635, gnomAD 0.007%). 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: 1005778). 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: "Benign"; 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.
Natera, Inc. RCV001302715 SCV002082756 uncertain significance Cohen syndrome 2020-07-10 no assertion criteria provided clinical testing

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