ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) (rs145807475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767134 SCV000522093 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATRX gene. The T894P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T894P variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or in the 1000 Genomes Project. The T894P 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. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
ITMI RCV000120178 SCV000084321 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000640839 SCV000762440 likely benign ATR-X syndrome 2017-12-28 criteria provided, single submitter clinical testing

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