ClinVar Miner

Submissions for variant NM_020442.5(VARS2):c.1850C>T (p.Thr617Met) (rs367837827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413756 SCV000492320 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing The T647M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T647M variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The T647M 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GenomeConnect, ClinGen RCV000709983 SCV000840349 not provided Combined oxidative phosphorylation deficiency 20 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676492 SCV000802275 uncertain significance not provided 2017-06-14 no assertion criteria provided clinical testing

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