ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)

gnomAD frequency: 0.00006  dbSNP: rs563954136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535040 SCV000642908 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727817 SCV000855239 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000727817 SCV001780306 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844195 SCV002104044 likely benign not specified 2022-02-07 criteria provided, single submitter clinical testing Variant summary: TTN c.23899T>C alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 248202 control chromosomes. 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.23899T>C in individuals affected with Dilated Cardiomyopathy/Limb Girle Muscular Dystrophy/TTN-related disorders and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (Likely Benign, n=2, VUS, n=1). Based on the evidence outlined above, the variant was classified as likely benign.

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