ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)

dbSNP: rs749770110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214216 SCV000272971 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-15 criteria provided, single submitter clinical testing The p.R1466Q variant (also known as c.4397G>A), located in coding exon 28 of the ATM gene, results from a G to A substitution at nucleotide position 4397. The arginine at codon 1466 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000214216 SCV000682203 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000705795 SCV000834810 uncertain significance Ataxia-telangiectasia syndrome 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1466 of the ATM protein (p.Arg1466Gln). This variant is present in population databases (rs749770110, gnomAD 0.006%). 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: 229676). 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 disruptive. 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.
Baylor Genetics RCV003468977 SCV004209398 uncertain significance Familial cancer of breast 2023-09-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000705795 SCV001462323 uncertain significance Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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