ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) (rs772468452)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526307 SCV000628186 pathogenic Hereditary cancer-predisposing syndrome 2020-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg706*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases at a very low frequency (rs772468452, ExAC 0.009%). This variant has not been reported in the literature in individuals with a RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000526307 SCV000667033 pathogenic Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing The p.R706* pathogenic mutation (also known as c.2116C>T), located in coding exon 13 of the RAD50 gene, results from a C to T substitution at nucleotide position 2116. This changes the amino acid from an arginine to a stop codon within coding exon 13. 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.
Fulgent Genetics,Fulgent Genetics RCV000763129 SCV000893687 pathogenic Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing

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