ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.375+5G>A

gnomAD frequency: 0.00001  dbSNP: rs768867643
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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 RCV002015970 SCV002295588 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2022-01-28 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the FTL gene. It does not directly change the encoded amino acid sequence of the FTL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs768867643, gnomAD 0.02%). 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. This variant has not been reported in the literature in individuals affected with FTL-related conditions. 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 may disrupt the consensus splice site.

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