ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)

gnomAD frequency: 0.00061  dbSNP: rs73273219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081877 SCV000113812 uncertain significance not provided 2012-11-20 criteria provided, single submitter clinical testing
Invitae RCV001080363 SCV001013940 likely benign Cohen syndrome 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336236 SCV002643613 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.I3976T variant (also known as c.11927T>C), located in coding exon 61 of the VPS13B gene, results from a T to C substitution at nucleotide position 11927. The isoleucine at codon 3976 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003925075 SCV004739679 likely benign VPS13B-related disorder 2022-04-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001080363 SCV001454490 likely benign Cohen syndrome 2019-11-11 no assertion criteria provided clinical testing

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