ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)

gnomAD frequency: 0.00001  dbSNP: rs757707584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513131 SCV000609317 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821432 SCV002067626 uncertain significance not specified 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524972 SCV003450119 uncertain significance Cohen syndrome 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1221 of the VPS13B protein (p.Pro1221His). This variant is present in population databases (rs757707584, gnomAD 0.002%). 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: 444761). 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.

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