ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.375T>C (p.His125=)

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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 RCV003084204 SCV003467799 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2022-03-09 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with FTL-related conditions. This variant is present in population databases (rs774193242, gnomAD 0.006%). This sequence change affects codon 125 of the FTL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FTL protein. It affects a nucleotide within the consensus splice site.

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