ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.432A>G (p.Ile144Met)

gnomAD frequency: 0.00001  dbSNP: rs772173522
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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 RCV000791925 SCV000931194 uncertain significance Ataxia-telangiectasia syndrome 2022-06-13 criteria provided, single submitter clinical testing 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: 639187). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs772173522, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 144 of the ATM protein (p.Ile144Met).
Ambry Genetics RCV002332580 SCV002633270 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing The p.I144M variant (also known as c.432A>G), located in coding exon 4 of the ATM gene, results from an A to G substitution at nucleotide position 432. The isoleucine at codon 144 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV004569497 SCV005056962 uncertain significance Familial cancer of breast 2024-02-20 criteria provided, single submitter clinical testing

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