ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.502G>T (p.Glu168Ter)

dbSNP: rs768204975
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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 RCV000685530 SCV000813015 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2018-01-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FTL gene (p.Glu168*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 8 amino acids of the FTL protein. 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 not been reported in the literature in individuals with FTL-related disease. This variant is not present in population databases (ExAC no frequency). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown.

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