ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8093T>C (p.Leu2698Ser)

dbSNP: rs2136660259
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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 RCV001942877 SCV002186246 uncertain significance Ataxia-telangiectasia syndrome 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 2698 of the ATM protein (p.Leu2698Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. 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. 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).

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