ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.529-5C>T (rs766288973)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248552 SCV000320456 uncertain significance Cardiovascular phenotype 2015-11-12 criteria provided, single submitter clinical testing The c.529-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 7 in the TXNRD2 gene. Based on data from ExAC, the T allele was reported in 2 of 104574 (0.002%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed November 6, 2015]).This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6260 samples (12520 alleles) with coverage at this position. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000548389 SCV000623493 likely benign Primary dilated cardiomyopathy 2017-06-20 criteria provided, single submitter clinical testing

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