ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg)

dbSNP: rs35118109
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320529 SCV001511318 uncertain significance Ataxia-telangiectasia syndrome 2020-12-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 2237 of the ATM protein (p.Lys2237Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals with ATM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV003375218 SCV004098411 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-21 criteria provided, single submitter clinical testing The p.K2237R variant (also known as c.6710A>G), located in coding exon 45 of the ATM gene, results from an A to G substitution at nucleotide position 6710. The lysine at codon 2237 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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.
Baylor Genetics RCV004570768 SCV005057128 uncertain significance Familial cancer of breast 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001320529 SCV002076731 uncertain significance Ataxia-telangiectasia syndrome 2021-06-02 no assertion criteria provided clinical testing

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