ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys)

dbSNP: rs1387785337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758474 SCV001995399 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868498 SCV002122801 uncertain significance Ataxia-telangiectasia syndrome 2021-09-25 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with lysine at codon 1011 of the ATM protein (p.Thr1011Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine.

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