ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5186T>C (p.Val1729Ala) (rs1179068103)

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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 RCV000561288 SCV000665521 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000561288 SCV001344220 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV001241743 SCV001414784 uncertain significance Ataxia-telangiectasia syndrome 2019-04-01 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1729 of the ATM protein (p.Val1729Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast cancer (PMID: 19781682). ClinVar contains an entry for this variant (Variation ID: 481238). 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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