ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)

dbSNP: rs748752687
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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 RCV001018737 SCV001180009 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing The p.A1041T variant (also known as c.3121G>A), located in coding exon 20 of the ATM gene, results from a G to A substitution at nucleotide position 3121. The alanine at codon 1041 is replaced by threonine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860924 SCV002142417 uncertain significance Ataxia-telangiectasia syndrome 2021-08-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 822952). This sequence change replaces alanine with threonine at codon 1041 of the ATM protein (p.Ala1041Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321776 SCV004027195 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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