ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser)

gnomAD frequency: 0.00004  dbSNP: rs757781411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001665552 SCV001880252 uncertain significance not provided 2021-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488459 SCV002787618 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 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542067 SCV004777610 uncertain significance TTN-related disorder 2024-01-16 criteria provided, single submitter clinical testing The TTN c.38845C>T variant is predicted to result in the amino acid substitution p.Pro12949Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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