ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1522C>T (p.Leu508Phe) (rs1011518082)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512816 SCV000608615 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000541140 SCV000622266 uncertain significance Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 508 of the ATM protein (p.Leu508Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. 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: 444270). 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 C15"). 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.
Ambry Genetics RCV000569505 SCV000668050 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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