Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
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. |
Prevention |
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 |