ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8081G>A (p.Gly2694Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412488 SCV002675954 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-21 criteria provided, single submitter clinical testing The p.G2694E variant (also known as c.8081G>A), located in coding exon 54 of the ATM gene, results from a G to A substitution at nucleotide position 8081. The glycine at codon 2694 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV003605826 SCV004399344 uncertain significance Ataxia-telangiectasia syndrome 2023-03-04 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1761917). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2694 of the ATM protein (p.Gly2694Glu).

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