ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.607+1G>A (rs587776789)

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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 RCV000492670 SCV000580884 pathogenic Hereditary cancer-predisposing syndrome 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786882 SCV000925781 pathogenic Hereditary nonpolyposis colorectal cancer type 4 2018-09-27 no assertion criteria provided clinical testing
GeneDx RCV000483814 SCV000568219 pathogenic not provided 2017-01-27 criteria provided, single submitter clinical testing This variant is denoted RB1 c.607+1G>A or IVS6+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 6 of the RB1 gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as RB1 c.745+1G>A and g.45867G>A using alternate nomenclature, has been reported in several individuals with either a personal or family history of retinoblastoma (Richter 2003, Houdayer 2004, Brichard 2006). Based on the current evidence, we consider this variant to be pathogenic.

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