ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)

gnomAD frequency: 0.00006  dbSNP: rs370118111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552795 SCV000643393 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483438 SCV002788343 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139806 SCV003819049 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701626 SCV005202523 uncertain significance not specified 2024-07-12 criteria provided, single submitter clinical testing Variant summary: TTN c.48611C>T (p.Thr16204Ile) results in a non-conservative amino acid change located in the A band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-06 in 237586 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.48611C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 467286). Based on the evidence outlined above, the variant was classified as uncertain significance.

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