ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg)

dbSNP: rs1060501592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457228 SCV000546822 uncertain significance Ataxia-telangiectasia syndrome 2022-12-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 407544). This missense change has been observed in individual(s) with colorectal cancer (PMID: 28135145). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2397 of the ATM protein (p.Gln2397Arg).
Ambry Genetics RCV002374771 SCV002670154 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-13 criteria provided, single submitter clinical testing The p.Q2397R variant (also known as c.7190A>G), located in coding exon 48 of the ATM gene, results from an A to G substitution at nucleotide position 7190. The glutamine at codon 2397 is replaced by arginine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000457228 SCV002078119 uncertain significance Ataxia-telangiectasia syndrome 2020-12-03 no assertion criteria provided clinical testing

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