ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2325+1G>A (rs1131690882)

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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 RCV000492105 SCV000580836 pathogenic Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000705417 SCV000834413 pathogenic Retinoblastoma 2018-03-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 22 of the RB1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with retinoblastoma (PMID: 15884040, 27582626) and has  been reported to be de novo in affected individuals (PMID: 28193182). This variant is also known as c.2463+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 428709). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.

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