ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg)

dbSNP: rs730882129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002444667 SCV002753841 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.G1023R variant (also known as c.3067G>A), located in coding exon 19 of the ATM gene, results from a G to A substitution at nucleotide position 3067. The glycine at codon 1023 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000161935 SCV000211920 uncertain significance Ataxia-telangiectasia syndrome 2015-02-18 no assertion criteria provided clinical testing
Natera, Inc. RCV000161935 SCV002079060 uncertain significance Ataxia-telangiectasia syndrome 2020-12-15 no assertion criteria provided clinical testing

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