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

gnomAD frequency: 0.00001  dbSNP: rs398124635

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001380757	SCV001578914	pathogenic	Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy	2023-12-02	criteria provided, single submitter	clinical testing	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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with hyperferritinemia-cataract syndrome (PMID: 9226182, 16518306, 28746593). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16476). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000017940	SCV000038219	pathogenic	Hereditary hyperferritinemia with congenital cataracts	2013-02-19	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723575	SCV001951344	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723575	SCV001970766	pathogenic	not provided		no assertion criteria provided	clinical testing