ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)

gnomAD frequency: 0.00001  dbSNP: rs780001540
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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 RCV000216978 SCV000275299 pathogenic Hereditary cancer-predisposing syndrome 2019-09-04 criteria provided, single submitter clinical testing The p.R483* pathogenic mutation (also known as c.1447C>T), located in coding exon 12 of the MRE11A gene, results from a C to T substitution at nucleotide position 1447. This changes the amino acid from an arginine to a stop codon within coding exon 12. 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 RCV000642442 SCV000764121 pathogenic Ataxia-telangiectasia-like disorder 2020-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg483*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780001540, ExAC 0.01%). This variant has not been reported in the literature in individuals with MRE11-related disease. ClinVar contains an entry for this variant (Variation ID: 231449). 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 RCV001554327 SCV001775542 pathogenic Breast carcinoma 2021-08-10 no assertion criteria provided clinical testing

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