ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)

dbSNP: rs1157413766
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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 RCV001024452 SCV001186471 pathogenic Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing The p.R191* pathogenic mutation (also known as c.571C>T), located in coding exon 6 of the MRE11A gene, results from a C to T substitution at nucleotide position 571. This changes the amino acid from an arginine to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001037663 SCV001201087 pathogenic Ataxia-telangiectasia-like disorder 2019-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg191*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MRE11-related conditions. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Umraniye Training and Research Hospital,University of Health Sciences RCV001554263 SCV001774859 pathogenic Renal transitional cell carcinoma 2021-08-08 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV001784562 SCV002017552 pathogenic Ataxia-telangiectasia-like disorder 1 2019-12-10 no assertion criteria provided clinical testing

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