ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.504_511del (p.Leu169fs)

dbSNP: rs786202253
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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 RCV000164971 SCV000215664 pathogenic Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing The c.504_511delGCTTCAAA pathogenic mutation, located in coding exon 5 of the MRE11A gene, results from a deletion of 8 nucleotides at nucleotide positions 504 to 511, causing a translational frameshift with a predicted alternate stop codon (p.L169Rfs*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 RCV001059474 SCV001224098 pathogenic Ataxia-telangiectasia-like disorder 2021-08-13 criteria provided, single submitter clinical testing

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