ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro)

dbSNP: rs1565529248
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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 RCV000705470 SCV000834468 uncertain significance Ataxia-telangiectasia syndrome 2018-04-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 2438 of the ATM protein (p.Thr2438Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Color Diagnostics, LLC DBA Color Health RCV003584729 SCV004361842 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-26 criteria provided, single submitter clinical testing This missense variant replaces threonine with proline at codon 2438 of the ATM protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATM-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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