ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.389AGA[1] (p.Lys131del) (rs1315063739)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788863 SCV000928133 uncertain significance not provided 2018-12-19 criteria provided, single submitter clinical testing
Invitae RCV001043466 SCV001207215 uncertain significance Hypertrophic cardiomyopathy 2019-12-11 criteria provided, single submitter clinical testing This variant, c.392_394del, results in the deletion of 1 amino acid(s) of the TNNI3 protein (p.Lys131del), 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 in individual(s) with hypertrophic or dilated cardiomyopathy (PMID: 24111713, Invitae). ClinVar contains an entry for this variant (Variation ID: 636901). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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