ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.205C>A (p.Arg69Ser)

dbSNP: rs1555864037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544914 SCV000623777 uncertain significance Hypertrophic cardiomyopathy 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed specifically for the TNNI3 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). ClinVar contains an entry for this variant (Variation ID: 454403). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 69 of the TNNI3 protein (p.Arg69Ser).

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