ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7887A>G (p.Ile2629Met)

dbSNP: rs752886000
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563057 SCV000665656 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-18 criteria provided, single submitter clinical testing The p.I2629M variant (also known as c.7887A>G), located in coding exon 52 of the ATM gene, results from an A to G substitution at nucleotide position 7887. The isoleucine at codon 2629 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV001058181 SCV001222732 uncertain significance Ataxia-telangiectasia syndrome 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2629 of the ATM protein (p.Ile2629Met). This variant is present in population databases (rs752886000, gnomAD 0.0009%). 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: 481332). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Color Diagnostics, LLC DBA Color Health RCV000563057 SCV001349005 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001558673 SCV001780670 uncertain significance not provided 2021-08-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with renal cancer (Yehia 2018); This variant is associated with the following publications: (PMID: 29684080)
Baylor Genetics RCV004569145 SCV005053021 uncertain significance Familial cancer of breast 2023-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001058181 SCV002075943 uncertain significance Ataxia-telangiectasia syndrome 2021-06-28 no assertion criteria provided clinical testing

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