ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser)

gnomAD frequency: 0.00001  dbSNP: rs143185818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278034 SCV002779236 uncertain significance Hemochromatosis type 3 2022-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542887 SCV003517189 uncertain significance Hereditary hemochromatosis 2022-02-12 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 415 of the TFR2 protein (p.Gly415Ser). This variant is present in population databases (rs143185818, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 990092). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004035461 SCV004964780 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.1243G>A (p.G415S) alteration is located in exon 9 (coding exon 9) of the TFR2 gene. This alteration results from a G to A substitution at nucleotide position 1243, causing the glycine (G) at amino acid position 415 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278034 SCV001465026 uncertain significance Hemochromatosis type 3 2020-08-13 no assertion criteria provided clinical testing

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