ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro)

dbSNP: rs1820050200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297567 SCV001486591 uncertain significance Cohen syndrome 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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. 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 expected to disrupt VPS13B protein function. ClinVar contains an entry for this variant (Variation ID: 1001296). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1278 of the VPS13B protein (p.Thr1278Pro).
Natera, Inc. RCV001297567 SCV002082527 uncertain significance Cohen syndrome 2020-08-10 no assertion criteria provided clinical testing

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