ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-148G>C

dbSNP: rs2038438657
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307245 SCV001496649 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2020-03-23 criteria provided, single submitter clinical testing 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. This variant has been reported to affect FTL protein function (PMID: 23421845, 31414986). This variant has been observed in individual(s) with hyperferritinemia-cataract syndrome (PMID: 23421845). This variant is also known as Heidelberg +52G>C and G52C in the literature. 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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