ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7511T>A (p.Met2504Lys)

dbSNP: rs1060501644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312373 SCV001502823 uncertain significance Ataxia-telangiectasia syndrome 2020-08-03 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 2504 of the ATM protein (p.Met2504Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related conditions. 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 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.

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