ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys)

dbSNP: rs2135645575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508322 SCV001714395 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564239 SCV003205449 uncertain significance Ataxia-telangiectasia syndrome 2022-05-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1163345). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1132 of the ATM protein (p.Arg1132Lys). 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.

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