ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)

dbSNP: rs137852763
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712327 SCV000842797 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000009331 SCV001520878 pathogenic Ataxia-telangiectasia-like disorder 1 2020-01-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000009331 SCV002023515 likely pathogenic Ataxia-telangiectasia-like disorder 1 2023-09-04 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000009331 SCV004805146 pathogenic Ataxia-telangiectasia-like disorder 1 2024-03-17 criteria provided, single submitter research
GeneDx RCV000712327 SCV005201979 pathogenic not provided 2024-02-02 criteria provided, single submitter clinical testing Published functional studies suggest the p.(W210C) variant results in slightly lower nuclease activity, diminishes the interaction with Nbs1, and has similar sensitivity to DNA damage when compared to wildtype (PMID: 22078559, 22705791, 23080121, 23388631); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35048780, 31908056, 18652530, 15574463, 22705791, 31033087, 37808486, 23388631, 21324166, 22078559, 23080121, 32668560, 27124789, 17674145, 21035407, 18568480, 16189143, 31130284, 18083591)
OMIM RCV000009331 SCV000029549 pathogenic Ataxia-telangiectasia-like disorder 1 2005-01-15 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000009331 SCV001133231 pathogenic Ataxia-telangiectasia-like disorder 1 2019-09-26 no assertion criteria provided clinical testing

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