ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.282del (p.Ile94fs)

dbSNP: rs1561634357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693112 SCV000820967 pathogenic Hereditary cancer-predisposing syndrome 2023-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile94Metfs*36) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 571863). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000693112 SCV001177698 pathogenic Hereditary cancer-predisposing syndrome 2018-01-24 criteria provided, single submitter clinical testing The c.282delA pathogenic mutation, located in coding exon 3 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 282, causing a translational frameshift with a predicted alternate stop codon (p.I94Mfs*36). 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.

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