ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) (rs200490116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442621 SCV000529590 uncertain significance not provided 2016-07-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATR gene. The T2556S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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; but the 1000 Genomes Project reports T2556S was observed in 2/186 (1.08%) alleles from individuals of Chinese background. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the T2556S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with ATR-related disorder (Stenson et al., 2014). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000404039 SCV000441391 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing

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