ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.59C>T (p.Pro20Leu) (rs587778637)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858529 SCV000551840 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569325 SCV000674710 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Mendelics RCV000477348 SCV000838917 uncertain significance Retinoblastoma 2018-07-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121915 SCV000967518 uncertain significance not specified 2016-09-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Pro20Leu variant in RB1 has been reported in 3 individuals with unilateral retinoblastoma , including 1 individual with an apparent de novo occurrence (Richter 2003, Bric hard 2006, Houdayer, 2004, LOVD database). However, in another one of these indi viduals the tumor also had a nonsense variant and promoter methylation of RB1 (L OVD database). This variant is reported at 0.0031 (n=331) frequency in the Europ ean population (Bodian 2014, supporting table 1). Additional large population st udies have insufficient data to further assess the frequency of this variant. Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, while there is some su spicion for a pathogenic role, the clinical significance of the p.Pro20Leu varia nt is uncertain.
ITMI RCV000121915 SCV000086120 not provided not specified 2013-09-19 no assertion provided reference population

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