ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.565A>G (p.Arg189Gly)

dbSNP: rs2079701086
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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 RCV001303590 SCV001492839 uncertain significance Ataxia-telangiectasia syndrome 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 189 of the ATM protein (p.Arg189Gly). This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 1006533).
Ambry Genetics RCV003166712 SCV003868803 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-18 criteria provided, single submitter clinical testing The p.R189G variant (also known as c.565A>G), located in coding exon 5 of the ATM gene, results from an A to G substitution at nucleotide position 565. The arginine at codon 189 is replaced by glycine, 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.
Baylor Genetics RCV003469528 SCV004210191 uncertain significance Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing

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