ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-168G>T

dbSNP: rs398124635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093251 SCV001250143 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001386171 SCV001586309 pathogenic Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2022-09-23 criteria provided, single submitter clinical testing This variant is also known as +32G>T. For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant alters FTL gene expression (PMID: 9414300). ClinVar contains an entry for this variant (Variation ID: 16479). This variant has been observed in individual(s) with hyperferritinemia and cataracts syndrome (PMID: 9414300, 14662596, 23592921, 26849797). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the FTL gene. It does not change the encoded amino acid sequence of the FTL protein.
PreventionGenetics, part of Exact Sciences RCV003398536 SCV004105425 pathogenic FTL-related disorder 2023-12-15 criteria provided, single submitter clinical testing The FTL c.-168G>T variant is located in the 5' untranslated region. This variant has been reported in many individuals with autosomal dominant hyperferritinemia-cataract syndrome (Martin et al. 1998. PubMed ID: 9414300; Bennett et al. 2013. PubMed ID: 23592921; Cosentino et al. 2016. PubMed ID: 26849797). This variant occurs in the iron-responsive-element (IRE) of the FTL gene and distorts the loop structure, which disrupts binding with iron regulatory proteins and results in unregulated production of L-ferritin (Allerson et al. 1999. PubMed ID: 10473603; Brooks et al. 2002. PubMed ID: 11923255; Cosentino et al. 2016. PubMed ID: 26849797). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.
OMIM RCV000017943 SCV000038222 pathogenic Hereditary hyperferritinemia with congenital cataracts 2013-02-19 no assertion criteria provided literature only

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