ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) (rs397516351)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700121 SCV000828863 pathogenic Hypertrophic cardiomyopathy 2019-11-16 criteria provided, single submitter clinical testing This variant, c.532_534delAAG, results in the deletion of 1 amino acid of the TNNI3 protein (p.Lys178del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with hypertrophic cardiomyopathy (PMID: 12707239) and restrictive cardiomyopathy (PMID: 21533915). This variant has also been observed in several individuals with hypertrophic cardiomyopathy (PMID: 27532257, 18402758). ClinVar contains an entry for this variant (Variation ID: 43386). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000700121 SCV000059949 pathogenic Hypertrophic cardiomyopathy 2009-12-02 no assertion criteria provided clinical testing

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