ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)

dbSNP: rs1593457065
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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 RCV000799793 SCV000939473 pathogenic Retinoblastoma 2018-10-18 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu542*) in the RB1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002397604 SCV002708946 pathogenic Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter clinical testing The p.L542* pathogenic mutation (also known as c.1625T>A), located in coding exon 17 of the RB1 gene, results from a T to A substitution at nucleotide position 1625. This changes the amino acid from a leucine to a stop codon within coding exon 17. 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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