ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)

dbSNP: rs371077728
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129234 SCV000183989 pathogenic Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing The p.R364* pathogenic mutation (also known as c.1090C>T), located in coding exon 9 of the MRE11A gene, results from a C to T substitution at nucleotide position 1090. This changes the amino acid from an arginine to a stop codon within coding exon 9. This mutation was reported in an individual with a personal and family history breast cancer (Maxwell KN et al. Genet. Med. 2015 Aug; 17(8):630-8). This mutation, designated p.Arg364Ter, was also identified in an Asian Indian woman with breast cancer and a family history of breast and endometrial cancers (Sharma Bhai P et al. Breast Care (Basel), 2017 May;12:114-116). In addition to the clinical data presented in the literature, 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 RCV000791403 SCV000260355 pathogenic Ataxia-telangiectasia-like disorder 2021-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg364*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is present in population databases (rs371077728, ExAC 0.02%). This premature translational stop signal has been observed in individual(s) with hereditary cancer (PMID: 24763289). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662680 SCV000785388 pathogenic Ataxia-telangiectasia-like disorder 1 2017-08-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092185 SCV001248581 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV000662680 SCV002017543 pathogenic Ataxia-telangiectasia-like disorder 1 2019-07-09 no assertion criteria provided clinical testing

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