ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)

gnomAD frequency: 0.00001  dbSNP: rs554701601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560686 SCV000643362 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375599 SCV001572505 uncertain significance not specified 2021-04-05 criteria provided, single submitter clinical testing Variant summary: TTN c.46828C>T (p.Arg15610Cys) results in a non-conservative amino acid change located in the A-band domain 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 2.4e-05 in 247566 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.46828C>T has been reported in the literature in one individual affected with Dilated Cardiomyopathy (van Lint_2019). The report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003139805 SCV003823566 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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