ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly)

dbSNP: rs1057521185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559858 SCV000622781 uncertain significance Ataxia-telangiectasia syndrome 2023-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 453707). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2618 of the ATM protein (p.Arg2618Gly).
Ambry Genetics RCV002413420 SCV002669301 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-07 criteria provided, single submitter clinical testing The p.R2618G variant (also known as c.7852A>G), located in coding exon 52 of the ATM gene, results from an A to G substitution at nucleotide position 7852. The arginine at codon 2618 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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