ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg)

dbSNP: rs587780627
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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 RCV001023582 SCV001185482 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-13 criteria provided, single submitter clinical testing The p.Q1709R variant (also known as c.5126A>G), located in coding exon 33 of the ATM gene, results from an A to G substitution at nucleotide position 5126. The glutamine at codon 1709 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000122858 SCV000166116 uncertain significance Ataxia-telangiectasia syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines.

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