ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.24+2T>A (rs777702465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab,Charite University Medicine Berlin RCV000853117 SCV000995828 pathogenic Primary dilated cardiomyopathy 2019-07-03 criteria provided, single submitter research
Invitae RCV001341432 SCV001535304 uncertain significance Hypertrophic cardiomyopathy 2020-09-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the TNNI3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs777702465, ExAC 0.006%). This variant has been observed in the homozygous state in individual(s) with pediatric onset left ventricular noncompaction (PMID: 31568572). ClinVar contains an entry for this variant (Variation ID: 691809). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 31568572). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNNI3 cause disease. 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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