ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1287_1290del (p.Ile429fs)

dbSNP: rs1580993390
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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 RCV001010764 SCV001171004 pathogenic Hereditary cancer-predisposing syndrome 2018-10-12 criteria provided, single submitter clinical testing The c.1287_1290delAGAT pathogenic mutation, located in coding exon 9 of the RAD50 gene, results from a deletion of 4 nucleotides at nucleotide positions 1287 to 1290, causing a translational frameshift with a predicted alternate stop codon (p.I429Mfs*3). 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 RCV001010764 SCV001586532 pathogenic Hereditary cancer-predisposing syndrome 2022-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818805). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile429Metfs*3) 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).

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