ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8246A>T (p.Lys2749Ile) (rs779145081)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223476 SCV000273961 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000223476 SCV000911605 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347894 SCV000367068 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000347894 SCV000547049 uncertain significance Ataxia-telangiectasia syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 2749 of the ATM protein (p.Lys2749Ile). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is present in population databases (rs779145081, ExAC 0.02%). This variant has been reported in an individual affected with pancreatic ductal adenocarcinoma (PMID: 26692440). ClinVar contains an entry for this variant (Variation ID: 230416). 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.
Mendelics RCV000347894 SCV000838610 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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