ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg)

dbSNP: rs1181779478
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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 RCV000627849 SCV000748733 uncertain significance Ataxia-telangiectasia syndrome 2021-02-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 524233). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 2287 of the ATM protein (p.Gly2287Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Ambry Genetics RCV001025737 SCV001187984 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-23 criteria provided, single submitter clinical testing The p.G2287R variant (also known as c.6859G>A), located in coding exon 46 of the ATM gene, results from a G to A substitution at nucleotide position 6859. The glycine at codon 2287 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not 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.
Athena Diagnostics RCV001288456 SCV001475567 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing

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