ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) (rs1060501653)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477196 SCV000546999 uncertain significance Ataxia-telangiectasia syndrome 2019-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1512 of the ATM protein (p.Ala1512Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colon cancer (PMID: 27978560). ClinVar contains an entry for this variant (Variation ID: 407648). 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 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.
Ambry Genetics RCV000565707 SCV000660558 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000477196 SCV000798063 uncertain significance Ataxia-telangiectasia syndrome 2018-02-21 criteria provided, single submitter clinical testing
Color RCV000565707 SCV000911552 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991560 SCV001143110 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing

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