ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99605T>C (p.Leu33202Pro)

gnomAD frequency: 0.00002  dbSNP: rs370632563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756848 SCV000884796 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The TTN c.91901T>C; p.Leu30634Pro variant (rs370632563) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. While the clinical significance of such variants is considered uncertain, evidence suggests that the vast majority of missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the clinical significance of the p.Leu30634Pro variant cannot be determined with certainty.
GeneDx RCV000756848 SCV001995266 uncertain significance not provided 2019-11-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant within the A-band in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge

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