ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu)

gnomAD frequency: 0.00007  dbSNP: rs552843068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176943 SCV000228722 uncertain significance not provided 2015-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054779 SCV001219130 uncertain significance Cohen syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1566 of the VPS13B protein (p.Pro1566Leu). This variant is present in population databases (rs552843068, gnomAD 0.03%). 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: 196183). 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. RCV001054779 SCV002082550 uncertain significance Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003407653 SCV004107114 uncertain significance VPS13B-related disorder 2024-04-14 no assertion criteria provided clinical testing The VPS13B c.4622C>T variant is predicted to result in the amino acid substitution p.Pro1541Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% 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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