ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)

gnomAD frequency: 0.00003  dbSNP: rs747593205
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643119 SCV000764806 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993479 SCV001146482 uncertain significance not provided 2018-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334124 SCV002634682 uncertain significance Cardiovascular phenotype 2019-08-02 criteria provided, single submitter clinical testing The p.S15873R variant (also known as c.47619T>A), located in coding exon 153 of the TTN gene, results from a T to A substitution at nucleotide position 47619. The serine at codon 15873 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002477419 SCV002782000 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 2021-07-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000993479 SCV003826601 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403480 SCV004122031 uncertain significance not specified 2023-10-23 criteria provided, single submitter clinical testing

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