ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.515_516del (p.Leu172fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003014830 SCV003318033 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2022-07-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FTL gene (p.Leu172Glnfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the FTL protein and extend the protein by 3 additional amino acid residues. This variant is present in population databases (rs766011614, gnomAD 0.003%). 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 affected with FTL-related conditions.

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