ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)

gnomAD frequency: 0.00002  dbSNP: rs766419568
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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) RCV000176826 SCV000228570 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000176826 SCV002504375 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002281999 SCV002572345 uncertain significance not specified 2022-08-25 criteria provided, single submitter clinical testing Variant summary: TTN c.78320C>T (p.Pro26107Leu) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 247670 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.78320C>T has been reported in the literature in one homozygous individual affected with muscle weakness (Monies_2017). This report does not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Type 2J. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters have assessed the variant since 2014 without evidence for independent evaluation: one classified the variant as uncertain significance and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV000176826 SCV004237010 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003984828 SCV004801263 uncertain significance Dilated cardiomyopathy 1G 2024-03-14 criteria provided, single submitter research

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