ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2418G>T (p.Leu806Phe) (rs587781296)

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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 RCV000129001 SCV000172896 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000168332 SCV000219020 uncertain significance Ataxia-telangiectasia syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 806 of the ATM protein (p.Leu806Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs587781296, ExAC 0.002%). This variant has not been reported in the literature in individuals with ATM-related disease. It has been observed in an individual affected with late onset breast cancer (Invitae). However, in that individual, a pathogenic allele was also identified in ATM, which suggests that this c.2418G>T variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 140813). 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 RCV000129001 SCV000682053 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-14 criteria provided, single submitter clinical testing

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