ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile)

gnomAD frequency: 0.00001  dbSNP: rs549157416
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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 RCV003107835 SCV003781194 uncertain significance Cohen syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 2600 of the VPS13B protein (p.Asn2600Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs549157416, gnomAD 0.004%). 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: 1297677). 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723445 SCV001954319 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723445 SCV001964909 uncertain significance not provided no assertion criteria provided clinical testing

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