ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26179G>A (p.Val8727Ile)

gnomAD frequency: 0.00002  dbSNP: rs544958705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704960 SCV000238373 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000185452 SCV001737795 uncertain significance not specified 2021-06-14 criteria provided, single submitter clinical testing Variant summary: TTN c.22447G>A (p.Val7483Ile) results in a conservative amino acid change located in the I-band region of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 277732 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.22447G>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV001704960 SCV003827913 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing

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