ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)

dbSNP: rs878853547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227613 SCV000283067 uncertain significance Ataxia-telangiectasia syndrome 2019-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 2648 of the ATM protein (p.Pro2648Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 236781). 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").
Mendelics RCV000227613 SCV000838604 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362733 SCV004053908 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-17 criteria provided, single submitter clinical testing The p.P2648T variant (also known as c.7942C>A), located in coding exon 53 of the ATM gene, results from a C to A substitution at nucleotide position 7942. The proline at codon 2648 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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