ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1937_1940del (p.Ser646fs)

dbSNP: rs2138331562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380940 SCV001579166 pathogenic Retinoblastoma 2016-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in RB1 are known to be pathogenic (PMID: 17096365). This sequence change deletes 4 nucleotides from exon 19 of the RB1 mRNA (c.1937_1940delCTCT), causing a frameshift at codon 646. This creates a premature translational stop signal (p.Ser646Phefs*11) and is expected to result in an absent or disrupted protein product.

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