ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.307+3A>T

dbSNP: rs2543365976
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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 RCV003589632 SCV004249672 uncertain significance DICER1-related tumor predisposition 2023-09-03 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). This variant has been observed in individual(s) with thyroid cancer (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the DICER1 gene. It does not directly change the encoded amino acid sequence of the DICER1 protein. It affects a nucleotide within the consensus splice site.

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