ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.295_298del (p.Val99fs)

dbSNP: rs1555017184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563905 SCV000666420 pathogenic Hereditary cancer-predisposing syndrome 2019-09-17 criteria provided, single submitter clinical testing The c.295_298delGTCA pathogenic mutation, located in coding exon 3 of the MRE11A gene, results from a deletion of 4 nucleotides at nucleotide positions 295 to 298, causing a translational frameshift with a predicted alternate stop codon (p.V99Tfs*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.
Athena Diagnostics Inc RCV001288238 SCV001475209 likely pathogenic not provided 2019-12-10 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.
Invitae RCV002232091 SCV002509583 pathogenic Ataxia-telangiectasia-like disorder 2021-05-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val99Thrfs*10) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 481758). For these reasons, this variant has been classified as Pathogenic.

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