ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.96+6C>T

dbSNP: rs544743506
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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 RCV001309024 SCV001498505 uncertain significance Fanconi anemia 2022-12-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the FANCL gene. It does not directly change the encoded amino acid sequence of the FANCL protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with FANCL-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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1011259).

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