ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1328C>A (p.Ser443Ter) (rs1060503079)

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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 RCV000492335 SCV000580811 pathogenic Hereditary cancer-predisposing syndrome 2014-05-30 criteria provided, single submitter clinical testing
Invitae RCV000471628 SCV000551808 pathogenic Retinoblastoma 2016-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 443 (p.Ser443*) of the RB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RB1 are known to be pathogenic. This particular variant has been reported in the literature in an individual with retinoblastoma (PMID: 12541220). For these reasons, this variant has been classified as Pathogenic.

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