ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-153G>T

dbSNP: rs2122429855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002041353 SCV002110340 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2021-02-22 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with FTL-related conditions. 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. 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.

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