ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.4376A>G (p.Asn1459Ser) (rs144591613)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427924 SCV000530450 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATR gene. The N1459S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N1459S 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. This substitution occurs at a position that is conserved in mammals. However, the N1459S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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

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