ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) (rs769872474)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570407 SCV000672627 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000570407 SCV000903393 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000205064 SCV000799847 uncertain significance Ataxia-telangiectasia syndrome 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000205064 SCV000259341 uncertain significance Ataxia-telangiectasia syndrome 2018-12-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 1804 of the ATM protein (p.Ile1804Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs769872474, ExAC 0.001%). This variant has been reported in the literature in individuals affected with breast cancer (PMID: 19781682). ClinVar contains an entry for this variant (Variation ID: 219462). 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 tolerated, but these predictions have not been confirmed by published functional studies. 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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