ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg)

dbSNP: rs1555151490
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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 RCV000627861 SCV000748745 uncertain significance Ataxia-telangiectasia syndrome 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2989 of the ATM protein (p.Gln2989Arg). This variant is not present in population databases (gnomAD no frequency). 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: 524240). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The arginine 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.
Ambry Genetics RCV001018554 SCV001179807 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing The p.Q2989R variant (also known as c.8966A>G), located in coding exon 61 of the ATM gene, results from an A to G substitution at nucleotide position 8966. The glutamine at codon 2989 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Natera, Inc. RCV000627861 SCV002083154 uncertain significance Ataxia-telangiectasia syndrome 2020-08-10 no assertion criteria provided clinical testing

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