ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter)

dbSNP: rs1180352898
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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 RCV001010337 SCV001170516 pathogenic Hereditary cancer-predisposing syndrome 2018-08-31 criteria provided, single submitter clinical testing The p.Q404* pathogenic mutation (also known as c.1210C>T), located in coding exon 10 of the MRE11A gene, results from a C to T substitution at nucleotide position 1210. This changes the amino acid from a glutamine to a stop codon within coding exon 10. 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.
Baylor Genetics RCV003461315 SCV004193891 likely pathogenic Ataxia-telangiectasia-like disorder 1 2022-05-11 criteria provided, single submitter clinical testing

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