ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) (rs201091657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623830 SCV000742492 likely pathogenic Inborn genetic diseases 2017-06-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000494358 SCV000583270 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing The D217Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D217Y variant was not observed in approximately 6,500 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 D217Y 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. Variants in nearby residues (insert nearby pathogenic variants) have been reported in the Human Gene Mutation Database in association with hypocalciuric hypercalcaemia (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded

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