ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)

gnomAD frequency: 0.00003  dbSNP: rs786202089
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164728 SCV000215400 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The p.R1973G variant (also known as c.5917A>G), located in coding exon 38 of the ATM gene, results from an A to G substitution at nucleotide position 5917. The arginine at codon 1973 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Invitae RCV000227713 SCV000283001 uncertain significance Ataxia-telangiectasia syndrome 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1973 of the ATM protein (p.Arg1973Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 185328). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Studies have shown that this missense change is associated with inconclusive levels of altered splicing (Invitae). 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.
GeneDx RCV000481261 SCV000567617 uncertain significance not provided 2023-01-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23532176, 30287823)
Color Diagnostics, LLC DBA Color Health RCV000164728 SCV000687652 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-24 criteria provided, single submitter clinical testing
Mendelics RCV000227713 SCV000838562 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468721 SCV004207661 uncertain significance Familial cancer of breast 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000227713 SCV002075496 uncertain significance Ataxia-telangiectasia syndrome 2020-12-31 no assertion criteria provided clinical testing

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