ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)

gnomAD frequency: 0.00009  dbSNP: rs142110082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001160562 SCV001322374 uncertain significance Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001160562 SCV001414205 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003128951 SCV003805882 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26934580)
PreventionGenetics, part of Exact Sciences RCV003928759 SCV004753584 likely benign VPS13B-related disorder 2022-03-31 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. RCV001160562 SCV002082696 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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