ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)

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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 RCV002335049 SCV002635304 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-19 criteria provided, single submitter clinical testing The p.N1549D variant (also known as c.4645A>G), located in coding exon 30 of the ATM gene, results from an A to G substitution at nucleotide position 4645. The asparagine at codon 1549 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096402 SCV002978266 uncertain significance Ataxia-telangiectasia syndrome 2022-10-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1549 of the ATM protein (p.Asn1549Asp).
Baylor Genetics RCV004572286 SCV005056994 uncertain significance Familial cancer of breast 2024-02-13 criteria provided, single submitter clinical testing

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