ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) (rs587778074)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216124 SCV000277523 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-26 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000472666 SCV000547159 uncertain significance Ataxia-telangiectasia syndrome 2019-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 1318 of the ATM protein (p.Val1318Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs587778074, ExAC 0.01%) but has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 133617). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ITMI RCV000120135 SCV000084274 not provided not specified 2013-09-19 no assertion provided reference population

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