ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val)

gnomAD frequency: 0.00001  dbSNP: rs900858263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764016 SCV002000278 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV002489801 SCV002793362 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 2021-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536297 SCV004116997 uncertain significance TTN-related disorder 2022-09-29 criteria provided, single submitter clinical testing The TTN c.84122C>T variant is predicted to result in the amino acid substitution p.Ala28041Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179426737-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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