ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)

gnomAD frequency: 0.00011  dbSNP: rs375309278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176351 SCV000334499 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457092 SCV000542262 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852842 SCV000995573 likely benign Primary dilated cardiomyopathy 2019-05-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176351 SCV003823016 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700538 SCV005203604 uncertain significance not specified 2024-07-15 criteria provided, single submitter clinical testing Variant summary: TTN c.45886A>G (p.Thr15296Ala) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.5e-05 in 202674 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.45886A>G in individuals affected with TTN-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 195716). Based on the evidence outlined above, the variant was classified as uncertain significance.

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