ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.-46C>A

gnomAD frequency: 0.00002  dbSNP: rs768457741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405174 SCV000414206 uncertain significance Hereditary hyperferritinemia with congenital cataracts 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280711 SCV000414207 uncertain significance Neuroferritinopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859952 SCV002202419 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2022-06-10 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. ClinVar contains an entry for this variant (Variation ID: 329785). This variant has not been reported in the literature in individuals affected with FTL-related conditions. This variant is present in population databases (rs768457741, gnomAD 0.005%). 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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