ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-149G>C

dbSNP: rs398124638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002482883 SCV002787291 likely pathogenic Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy; L-ferritin deficiency 2021-10-23 criteria provided, single submitter clinical testing
Invitae RCV003764586 SCV004571447 likely pathogenic Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2024-01-06 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 clinical features of hyperferritinemia-cataract syndrome (PMID: 10759702, 23300176; Invitae). This variant is also known as G51C, +51G>C. ClinVar contains an entry for this variant (Variation ID: 16482). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects FTL function (PMID: 10759702). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000017946 SCV000038225 pathogenic Hereditary hyperferritinemia with congenital cataracts 2013-04-01 no assertion criteria provided literature only

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