ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu)

gnomAD frequency: 0.00004  dbSNP: rs759208053
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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 RCV000643306 SCV000764993 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-15 criteria provided, single submitter clinical testing
GeneDx RCV003151801 SCV003840617 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240377 SCV005884710 uncertain significance not specified 2024-12-06 criteria provided, single submitter clinical testing

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