ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) (rs140601319)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719566 SCV000850435 uncertain significance History of neurodevelopmental disorder 2017-01-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000711291 SCV000841628 uncertain significance not provided 2017-09-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711291 SCV000225902 uncertain significance not provided 2014-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515161 SCV000611527 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000711291 SCV000564894 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing The A590T variant in the VPS13B gene has been reported previously as a paternally inherited variant, found in the heterozygous state, in a patient with Cohen syndrome (Katzaki et al., 2007); no second variant was identified in the affected individual. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports A590T was observed at a frequency of 0.15%, 13/8600 alleles, from individuals of European American background. The A590T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A590T as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000193331 SCV000249400 uncertain significance not specified 2015-04-21 criteria provided, single submitter clinical testing

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