ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)

gnomAD frequency: 0.00001  dbSNP: rs145957227
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554372 SCV000643230 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481646 SCV002788637 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 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000509322 SCV003824794 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527616 SCV004105934 uncertain significance TTN-related disorder 2023-06-02 criteria provided, single submitter clinical testing The TTN c.4700T>C variant is predicted to result in the amino acid substitution p.Ile1567Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179641990-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GenomeConnect, ClinGen RCV000509322 SCV000606997 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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