ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)

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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 RCV002603118 SCV003498320 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2024-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr63*) in the FTL gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FTL cause disease. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FTL-related conditions. ClinVar contains an entry for this variant (Variation ID: 2181028). 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.

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