Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003786919 | SCV004574070 | uncertain significance | Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with FTL-related conditions (PMID: 16395671). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as 56A>T. 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. |