ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) (rs142674934)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724113 SCV000228257 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193659 SCV000249409 uncertain significance not specified 2014-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000724113 SCV000564895 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing The T1271S variant in the VPS13B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T1271S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T1271S as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000515402 SCV000611529 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000515402 SCV000630872 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719533 SCV000850401 uncertain significance History of neurodevelopmental disorder 2018-11-16 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000515402 SCV001325674 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.

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