ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.436G>A (p.Gly146Ser)

gnomAD frequency: 0.00005  dbSNP: rs111962558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658847 SCV000780644 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000658847 SCV005392569 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005213367 SCV005857019 uncertain significance Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2024-06-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 146 of the FTL protein (p.Gly146Ser). This variant is present in population databases (rs111962558, gnomAD 0.008%). 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: 546849). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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