ClinVar Miner

Submissions for variant NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)

dbSNP: rs730881064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159205 SCV000209151 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770191 SCV000901619 uncertain significance Cardiomyopathy 2019-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243941 SCV001417132 uncertain significance Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 25 of the TNNC1 protein (p.Asp25Asn). 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: 181571). 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. 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.
Baylor Genetics RCV001329673 SCV001521177 uncertain significance Dilated cardiomyopathy 1Z 2019-04-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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