ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)

gnomAD frequency: 0.00009  dbSNP: rs368692616
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002488466 SCV002792282 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001699930 SCV003822923 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331191 SCV004038635 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542086 SCV004792463 uncertain significance TTN-related disorder 2023-11-05 criteria provided, single submitter clinical testing The TTN c.17437T>A variant is predicted to result in the amino acid substitution p.Cys5813Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179596056-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Genetics, Academic Medical Center RCV001699930 SCV001926215 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699930 SCV001974118 uncertain significance not provided no assertion criteria provided clinical testing

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