ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6226A>G (p.Ile2076Val) (rs755973863)

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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 RCV000217659 SCV000278591 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ,Insufficient or conflicting evidence,In silico models in agreement (benign) ,Insufficient evidence
Invitae RCV000456769 SCV000547048 uncertain significance Ataxia-telangiectasia syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2076 of the ATM protein (p.Ile2076Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs755973863, ExAC 0.001%). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 234090). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Counsyl RCV000456769 SCV000800429 uncertain significance Ataxia-telangiectasia syndrome 2018-06-05 criteria provided, single submitter clinical testing
Color RCV000217659 SCV000903405 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing

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