ClinVar Miner

Submissions for variant NM_003280.3(TNNC1):c.130G>A (p.Val44Met)

dbSNP: rs1706339531
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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 RCV002546259 SCV003342433 uncertain significance Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 2023-12-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 44 of the TNNC1 protein (p.Val44Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNNC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1027652). 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.
Institute of Human Genetics, University of Wuerzburg RCV001328482 SCV001519636 likely pathogenic Hypertrophic cardiomyopathy no assertion criteria provided clinical testing

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