ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.137+3G>A

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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 RCV003835557 SCV004631745 uncertain significance Retinoblastoma 2022-11-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RB1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis provides insufficient evidence to determine the effect of this variant on RB1 splicing (Invitae) This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the RB1 gene. It does not directly change the encoded amino acid sequence of the RB1 protein. It affects a nucleotide within the consensus splice site.

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