ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4549C>T (p.Leu1517Phe) (rs754058482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197465 SCV000254112 uncertain significance Ataxia-telangiectasia syndrome 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1517 of the ATM protein (p.Leu1517Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs754058482, ExAC 0.01%). This variant has been observed in individual(s) with ovarian cancer (PMID: 30651582). ClinVar contains an entry for this variant (Variation ID: 216219). 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: "Deleterious"; 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.
Ambry Genetics RCV000220701 SCV000275881 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000220701 SCV000913943 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-18 criteria provided, single submitter clinical testing

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