ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del)

dbSNP: rs2050997801
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Total submissions: 2
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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 RCV001779462 SCV002014878 uncertain significance not specified 2023-10-02 criteria provided, single submitter clinical testing Variant summary: TTN c.50218_50220delCCT (p.Pro16740del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant was absent in 248282 control chromosomes (gnomAD). 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.50218_50220delCCT 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.
Clinical Genomics Laboratory, Stanford Medicine RCV004571091 SCV005050210 uncertain significance Dilated cardiomyopathy 1G 2021-07-21 criteria provided, single submitter clinical testing The p.Pro19308del variant in the TTNgene has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/).However, the ability to detect this type of variation is limited. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Pro19308del variant is uncertain. Additional information is needed to resolve the significance of this variant.[ACMG evidence codes used: PM2]

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