ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5363G>T (p.Gly1788Val)

dbSNP: rs2135927977
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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 RCV001892334 SCV002148197 uncertain significance Ataxia-telangiectasia syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1788 of the ATM protein (p.Gly1788Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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.

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