Submissions for variant NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln)

gnomAD frequency: 0.00035  dbSNP: rs201556221

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001162740	SCV001324705	uncertain significance	Hemochromatosis type 3	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001247589	SCV001421019	likely benign	Hereditary hemochromatosis	2025-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001162740	SCV002789987	uncertain significance	Hemochromatosis type 3	2021-07-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002558553	SCV003695933	uncertain significance	Inborn genetic diseases	2021-07-09	criteria provided, single submitter	clinical testing	The c.2135G>A (p.R712Q) alteration is located in exon 17 (coding exon 17) of the TFR2 gene. This alteration results from a G to A substitution at nucleotide position 2135, causing the arginine (R) at amino acid position 712 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001162740	SCV003827203	uncertain significance	Hemochromatosis type 3	2019-04-12	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724260	SCV001959171	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724260	SCV001970601	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001162740	SCV002079924	uncertain significance	Hemochromatosis type 3	2019-11-13	no assertion criteria provided	clinical testing