ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)

dbSNP: rs1824676022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001254895 SCV001426395 pathogenic Arthrogryposis, distal, type 1A; Congenital myopathy 23 2020-07-28 criteria provided, single submitter clinical testing The variant c.782A>G (p.Tyr261Cys) in TPM2 has been reported by Beck et al. (2013) in a sporadic case of distal arthrogryposis type 2B (PMID: 23401156). The variant is reported as “affects function” in the Global Variome shared LOVD database v.3.0. This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLBI Exome Sequencing Project (ESP) or ClinVar. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.98).
GeneDx RCV001573796 SCV002538760 pathogenic not provided 2023-08-30 criteria provided, single submitter clinical testing Previously reported in the heterozygous state in two individuals with distal arthyrogryposis and/or congenital myopathy (Marttila et al., 2014); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23401156, 24692096)
Illumina Laboratory Services, Illumina RCV003389253 SCV004101283 likely pathogenic TPM2-related myopathy 2023-09-06 criteria provided, single submitter clinical testing The TPM2 c.782A>G (p.Tyr261Cys) missense variant has been identified in at least three individuals with congenital myopathy/distal arthrogryposis type 1, with at least one individual noted to have a de novo occurrence of the variant (PMID: 23401156; 24692096). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Computational evidence suggests the variant may impact the gene or gene product. This variant has been shown to segregate with disease. Based on the available evidence, the c.782A>G (p.Tyr261Cys) variant is classified as likely pathogenic for TPM2-related myopathy.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573796 SCV001800176 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573796 SCV001956085 likely pathogenic not provided no assertion criteria provided clinical testing

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