ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)

gnomAD frequency: 0.00002  dbSNP: rs775579156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184753 SCV000237460 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Invitae RCV000643176 SCV000764863 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765556 SCV000896871 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 2021-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321747 SCV002632432 uncertain significance Cardiovascular phenotype 2019-12-20 criteria provided, single submitter clinical testing The p.S13533R variant (also known as c.40597A>C), located in coding exon 147 of the TTN gene, results from an A to C substitution at nucleotide position 40597. The serine at codon 13533 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003137732 SCV003825560 uncertain significance not provided 2022-04-02 criteria provided, single submitter clinical testing

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