ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2539C>A (p.Pro847Thr) (rs774142530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762533 SCV000892861 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Invitae RCV001061971 SCV001226740 uncertain significance Cohen syndrome 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 847 of the VPS13B protein (p.Pro847Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs774142530, ExAC 0.007%). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 624340). 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.

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