ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr)

gnomAD frequency: 0.00002  dbSNP: rs369062407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711302 SCV000841642 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001275675 SCV002108900 uncertain significance Cohen syndrome 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2552 of the VPS13B protein (p.Ala2552Thr). This variant is present in population databases (rs369062407, 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: 585719). 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) performed at Invitae indicates that this missense variant is not expected to disrupt VPS13B protein function with a negative predictive value of 80%. 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. RCV001275675 SCV001460978 uncertain significance Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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