ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter)

dbSNP: rs1157436927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013538 SCV001174137 pathogenic Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The p.Q629* pathogenic mutation (also known as c.1885C>T), located in coding exon 16 of the MRE11A gene, results from a C to T substitution at nucleotide position 1885. This changes the amino acid from a glutamine to a stop codon within coding exon 16. 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 RCV003769460 SCV004675113 pathogenic Ataxia-telangiectasia-like disorder 2022-12-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 820257). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln629*) 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). For these reasons, this variant has been classified as Pathogenic.

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