ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.67T>C (p.Ser23Pro)

dbSNP: rs1555864374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546206 SCV000623794 uncertain significance Hypertrophic cardiomyopathy 2023-06-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 23 of the TNNI3 protein (p.Ser23Pro). This variant is not present in population databases (gnomAD no frequency). 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: 454413). 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 disruptive. 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.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786226 SCV000924964 uncertain significance not provided 2016-03-01 no assertion criteria provided provider interpretation

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