ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser)

gnomAD frequency: 0.00005  dbSNP: rs182516675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293178 SCV001434176 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002486002 SCV002787870 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 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538542 SCV004120346 uncertain significance TTN-related disorder 2023-06-22 criteria provided, single submitter clinical testing The TTN c.16135C>T variant is predicted to result in the amino acid substitution p.Pro5379Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179610992-G-A). 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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