ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8741T>C (p.Ile2914Thr) (rs780303327)

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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 RCV000167039 SCV000217863 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000668579 SCV000793205 uncertain significance Ataxia-telangiectasia syndrome 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV000668579 SCV000957651 uncertain significance Ataxia-telangiectasia syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2914 of the ATM protein (p.Ile2914Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs780303327, ExAC 0.01%). This variant has been observed in an individual with early onset and/or familial breast cancer (PMID: 19347964). ClinVar contains an entry for this variant (Variation ID: 187320). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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