ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6443A>T (p.Lys2148Ile) (rs730881382)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159747 SCV000209762 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is denoted ATM c.6443A>T at the cDNA level, p.Lys2148Ile (K2148I) at the protein level, and results in the change of a Lysine to an Isoleucine (AAA>ATA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. ATM Lys2148Ile was not observed in large population cohorts (Lek 2016). This variant is located in the FAT domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether ATM Lys2148Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

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