ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1A>T (p.Met1Leu)

dbSNP: rs2138026940
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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 RCV001964943 SCV002198711 uncertain significance Retinoblastoma 2021-10-21 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with retinoblastoma (PMID: 21520333, 24225018). This sequence change affects the initiator methionine of the RB1 mRNA. The next in-frame methionine is located at codon 113.

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