ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)

gnomAD frequency: 0.00002  dbSNP: rs746133264
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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 RCV000574934 SCV000672711 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-27 criteria provided, single submitter clinical testing The p.A1024V variant (also known as c.3071C>T), located in coding exon 19 of the ATM gene, results from a C to T substitution at nucleotide position 3071. The alanine at codon 1024 is replaced by valine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000702349 SCV000831201 uncertain significance Ataxia-telangiectasia syndrome 2024-12-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1024 of the ATM protein (p.Ala1024Val). This variant is present in population databases (rs746133264, gnomAD 0.005%). 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: 485230). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ATM protein function with a negative predictive value of 95%. 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.
Athena Diagnostics RCV002473066 SCV002771830 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465257 SCV004210130 uncertain significance Familial cancer of breast 2023-07-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000702349 SCV001462132 uncertain significance Ataxia-telangiectasia syndrome 2020-01-24 no assertion criteria provided clinical testing

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