ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del)

dbSNP: rs765275660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493676 SCV000582536 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing In-frame deletion/insertion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV001262955 SCV001441014 uncertain significance Arthrogryposis, distal, type 2B2 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424045 SCV004116856 uncertain significance TNNT3-related disorder 2024-01-05 no assertion criteria provided clinical testing The TNNT3 c.530_532delAGA variant is predicted to result in an in-frame deletion (p.Lys177del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0086% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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