ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln)

gnomAD frequency: 0.00002  dbSNP: rs755397489
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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 RCV000535120 SCV000622576 uncertain significance Ataxia-telangiectasia syndrome 2022-01-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1751 of the ATM protein (p.Glu1751Gln). This variant is present in population databases (rs755397489, gnomAD 0.01%). 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: 453569). 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.
Ambry Genetics RCV001023802 SCV001185724 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-05 criteria provided, single submitter clinical testing The p.E1751Q variant (also known as c.5251G>C), located in coding exon 34 of the ATM gene, results from a G to C substitution at nucleotide position 5251. The glutamic acid at codon 1751 is replaced by glutamine, 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.
Natera, Inc. RCV000535120 SCV002081748 uncertain significance Ataxia-telangiectasia syndrome 2019-10-28 no assertion criteria provided clinical testing

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