ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8056T>C (p.Phe2686Leu) (rs1555127125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582097 SCV000687814 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing
Invitae RCV000706251 SCV000835290 uncertain significance Ataxia-telangiectasia syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 2686 of the ATM protein (p.Phe2686Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with pancreatic and prostate cancer (Invitae). However, in that individual a pathogenic allele was also identified in ATM which suggests that this c.8056T>C variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 490724). 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 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.

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