ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)

dbSNP: rs1060503079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471628 SCV000551808 pathogenic Retinoblastoma 2016-11-16 criteria provided, single submitter clinical testing 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. 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.
Ambry Genetics RCV000492335 SCV000580811 pathogenic Hereditary cancer-predisposing syndrome 2014-05-30 criteria provided, single submitter clinical testing The p.S443* pathogenic mutation (also known as c.1328C>A) located in coding exon 13 of the RB1 gene, results from a C to A substitution at nucleotide position 1328. This changes the amino acid from a serine to a stop codon within coding exon 13. This alteration was previously identified in an individual with bilateral retinoblastoma (Richter S, Am. J. Hum. Genet. 2003 Feb; 72(2):253-69). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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