ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg)

dbSNP: rs2084587881
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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 RCV001214306 SCV001385981 uncertain significance Ataxia-telangiectasia syndrome 2022-11-28 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: 944000). 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 glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2013 of the ATM protein (p.Gly2013Arg).
Ambry Genetics RCV002356917 SCV002660466 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.G2013R variant (also known as c.6037G>A), located in coding exon 40 of the ATM gene, results from a G to A substitution at nucleotide position 6037. The glycine at codon 2013 is replaced by arginine, 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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