ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58160C>T (p.Thr19387Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489686 SCV004241736 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing Variant summary: TTN c.50456C>T (p.Thr16819Met) 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 7e-05 in 242148 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Dilated Cardiomyopathy (7e-05 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.50456C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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