ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp)

dbSNP: rs606231469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001850021 SCV002291244 likely pathogenic not provided 2021-10-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 526 of the TNNI3K protein (p.Gly526Asp). This missense change has been observed in individual(s) with TNNI3K-related conditions (PMID: 24925317). It has also been observed to segregate with disease in related individuals. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects TNNI3K function (PMID: 30010057). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 161447).
OMIM RCV000148950 SCV000195870 pathogenic Atrial conduction disease 2014-11-01 no assertion criteria provided literature only

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