ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys)

dbSNP: rs144917130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001164898 SCV001327058 benign Hemochromatosis type 3 2017-09-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002558596 SCV003255582 uncertain significance Hereditary hemochromatosis 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 402 of the TFR2 protein (p.Asn402Lys). This variant is present in population databases (rs144917130, gnomAD 0.05%). This missense change has been observed in individual(s) with hereditary hemochromatosis (PMID: 26183747). ClinVar contains an entry for this variant (Variation ID: 912005). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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