ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.437C>A (p.Thr146Lys) (rs368592452)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658132 SCV000779903 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing The T146K variant in the ATR gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T146K variant is observed in 9/23946 (0.038%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016). The T146K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret T146K as a variant of uncertain significance.

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