ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)

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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 RCV002400794 SCV002674620 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-09 criteria provided, single submitter clinical testing The p.I2583L variant (also known as c.7747A>C), located in coding exon 51 of the ATM gene, results from an A to C substitution at nucleotide position 7747. The isoleucine at codon 2583 is replaced by leucine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099732 SCV003289064 uncertain significance Ataxia-telangiectasia syndrome 2023-06-04 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. 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1760418). 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 isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2583 of the ATM protein (p.Ile2583Leu).
GeneDx RCV004765488 SCV005376451 uncertain significance not provided 2023-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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