ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1332+4A>G

dbSNP: rs2138136847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002254848 SCV002525980 uncertain significance Retinoblastoma 2022-01-14 criteria provided, single submitter clinical testing The RB1 c.1332+4A>G intronic change results in a A to G substitution at the +4 position of intron 13 of RB1 gene. This variant is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Algorithms that predict the impact of sequence changes on splicing indicate that this change may abolish the native splice donor site and likely result in an absent or disrupted protein product (PP3), but these predictions have not been confirmed by functional studies. This variant has been reported in one individual with unilateral retinoblastoma (PS4_supporting; internal data). In addition, this variant was assumed de novo in one individual with unilateral retinoblastoma (PM6; internal data). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PS4_supporting, PM6, PM2_supporting, PP3.

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