Submissions for variant NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002606000	SCV003498390	uncertain significance	Primary dilated cardiomyopathy	2023-05-25	criteria provided, single submitter	clinical testing	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. ClinVar contains an entry for this variant (Variation ID: 2181160). This variant has not been reported in the literature in individuals affected with TXNRD2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val26Glyfs*18) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease.
Ambry Genetics	RCV003294539	SCV003999410	uncertain significance	Cardiovascular phenotype	2023-04-21	criteria provided, single submitter	clinical testing	The c.70_76dupGGCGGGG variant, located in coding exon 1 of the TXNRD2 gene, results from a duplication of GGCGGGG at nucleotide position 70, causing a translational frameshift with a predicted alternate stop codon (p.V26Gfs*18). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.