ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)

dbSNP: rs1346404008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888847 SCV002155785 uncertain significance Ataxia-telangiectasia syndrome 2022-06-29 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1663 of the ATM protein (p.Gly1663Ser).
Ambry Genetics RCV002343967 SCV002645642 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter clinical testing The p.G1663S variant (also known as c.4987G>A), located in coding exon 32 of the ATM gene, results from a G to A substitution at nucleotide position 4987. The glycine at codon 1663 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003470995 SCV004212106 uncertain significance Familial cancer of breast 2023-01-23 criteria provided, single submitter clinical testing

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