ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6643A>C (p.Ser2215Arg)

dbSNP: rs730881312
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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 RCV001349455 SCV001543800 uncertain significance Ataxia-telangiectasia syndrome 2020-08-01 criteria provided, single submitter clinical testing 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 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 sequence change replaces serine with arginine at codon 2215 of the ATM protein (p.Ser2215Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency).

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