ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val)

gnomAD frequency: 0.00004  dbSNP: rs761504023
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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 RCV001046431 SCV001210335 uncertain significance Cohen syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2352 of the VPS13B protein (p.Ile2352Val). This variant is present in population databases (rs761504023, gnomAD 0.02%). 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: 843746). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on VPS13B protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003425892 SCV004117933 uncertain significance VPS13B-related disorder 2023-04-06 criteria provided, single submitter clinical testing The VPS13B c.6979A>G variant is predicted to result in the amino acid substitution p.Ile2327Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-100733204-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001046431 SCV002082631 uncertain significance Cohen syndrome 2021-03-01 no assertion criteria provided clinical testing

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