ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.775C>T (p.Gln259Ter)

dbSNP: rs1060501788
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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 RCV001026791 SCV001189240 pathogenic Hereditary cancer-predisposing syndrome 2023-04-12 criteria provided, single submitter clinical testing The p.Q259* variant (also known as c.775C>T), located in coding exon 7 of the MRE11A gene, results from a C to T substitution at nucleotide position 775. This changes the amino acid from a glutamine to a stop codon within coding exon 7. 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 RCV003467691 SCV004193895 likely pathogenic Ataxia-telangiectasia-like disorder 1 2022-02-08 criteria provided, single submitter clinical testing

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