ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2314del (p.Glu772fs)

dbSNP: rs1554099106
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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 RCV000567062 SCV000663673 pathogenic Hereditary cancer-predisposing syndrome 2020-07-22 criteria provided, single submitter clinical testing The c.2314delG pathogenic mutation, located in coding exon 14 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 2314, causing a translational frameshift with a predicted alternate stop codon (p.E772Kfs*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.
Invitae RCV000567062 SCV001578214 pathogenic Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu772Lysfs*7) 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 not present in population databases (gnomAD no frequency). 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: 480433). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470839 SCV004207431 likely pathogenic Nijmegen breakage syndrome-like disorder 2022-08-29 criteria provided, single submitter clinical testing

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