ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.394T>C (p.Ser132Pro) (rs786203851)

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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 RCV000167338 SCV000218189 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000701154 SCV000829938 uncertain significance Ataxia-telangiectasia syndrome 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 132 of the ATM protein (p.Ser132Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine 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. ClinVar contains an entry for this variant (Variation ID: 187595). 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: "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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