ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9138C>G (p.Ser3046Arg)

dbSNP: rs1591388202
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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 RCV001065248 SCV001230198 uncertain significance Ataxia-telangiectasia syndrome 2021-09-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 859192). This missense change has been observed in individual(s) with ataxia-telangiectasia (PMID: 21665257). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 3046 of the ATM protein (p.Ser3046Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.

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