ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro)

dbSNP: rs1565486302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704353 SCV000833298 uncertain significance Ataxia-telangiectasia syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 1919 of the ATM protein (p.Gln1919Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002343552 SCV002651697 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-14 criteria provided, single submitter clinical testing The p.Q1919P variant (also known as c.5756A>C), located in coding exon 37 of the ATM gene, results from an A to C substitution at nucleotide position 5756. The glutamine at codon 1919 is replaced by proline, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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