ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.193C>G (p.Gln65Glu)

gnomAD frequency: 0.00001  dbSNP: rs775248597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561045 SCV000672637 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-30 criteria provided, single submitter clinical testing The p.Q65E variant (also known as c.193C>G), located in coding exon 3 of the ATM gene, results from a C to G substitution at nucleotide position 193. The glutamine at codon 65 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000627894 SCV000748778 uncertain significance Ataxia-telangiectasia syndrome 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 65 of the ATM protein (p.Gln65Glu). This variant is present in population databases (rs775248597, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485178). 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 with a negative predictive value of 95%. 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.
Baylor Genetics RCV004569259 SCV005056941 uncertain significance Familial cancer of breast 2024-02-27 criteria provided, single submitter clinical testing

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