ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.58G>A (p.Ala20Thr) (rs1555053946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563287 SCV000668063 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001055893 SCV001220307 uncertain significance Ataxia-telangiectasia syndrome 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 20 of the ATM protein (p.Ala20Thr). 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 with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 482688). 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"). 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.

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