ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-157G>A

dbSNP: rs1600120873
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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 RCV000802043 SCV000941852 pathogenic Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2019-03-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change is located in the non-coding 5'UTR of the FTL gene, where a significant number of previously reported variants are found to associate with hyperferritinemia (PMID: 19800271, 7493028, 23421845, 10383191, 22881709, 9226182). Experimental studies have shown that this change reduces the binding between iron-responsive elements (IREs) and iron regulatory proteins (IRPs) to less than 1% of wild type. (PMID: 9726965). This variant has been observed in individuals and families with hereditary hyperferritinemia-cataract syndrome (PMID: 15690351, Invitae). This variant is also known as 43G>A or Fer HL1 in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in the non-coding 5'UTR of the FTL gene. It does not directly change the encoded amino acid sequence of the FTL protein.

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