ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.308G>T (p.Arg103Leu)

dbSNP: rs371000425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694460 SCV000822908 uncertain significance Hypertrophic cardiomyopathy 2023-09-10 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 103 of the TNNI3 protein (p.Arg103Leu). This variant is present in population databases (rs371000425, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. ClinVar contains an entry for this variant (Variation ID: 572938). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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