ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.377del (p.Ile126fs)

dbSNP: rs2138084130
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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 RCV001390007 SCV001591575 pathogenic Retinoblastoma 2020-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). This variant has not been reported in the literature in individuals with RB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile126Thrfs*10) in the RB1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002368232 SCV002625760 pathogenic Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing The c.377delT pathogenic mutation, located in coding exon 3 of the RB1 gene, results from a deletion of one nucleotide at nucleotide position 377, causing a translational frameshift with a predicted alternate stop codon (p.I126Tfs*10). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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