ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.193dup (p.Thr65fs)

gnomAD frequency: 0.00001  dbSNP: rs1750079483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387183 SCV001587746 pathogenic Hereditary cancer-predisposing syndrome 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr65Asnfs*24) 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: 1074013). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243177 SCV002512477 likely pathogenic Nijmegen breakage syndrome-like disorder 2021-12-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderate

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