ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1084A>G (p.Arg362Gly)

dbSNP: rs1591517251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017236 SCV001178283 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-13 criteria provided, single submitter clinical testing The p.R362G variant (also known as c.1084A>G), located in coding exon 8 of the ATM gene, results from an A to G substitution at nucleotide position 1084. The arginine at codon 362 is replaced by glycine, 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.
Natera, Inc. RCV001827192 SCV002092690 uncertain significance Ataxia-telangiectasia syndrome 2020-02-26 no assertion criteria provided clinical testing

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