ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6400T>C (p.Ser2134Pro) (rs758446561)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584725 SCV000687693 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000801724 SCV000941516 uncertain significance Ataxia-telangiectasia syndrome 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 2134 of the ATM protein (p.Ser2134Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs758446561, ExAC 0.006%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 490652). 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: "Possibly 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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