ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)

gnomAD frequency: 0.00004  dbSNP: rs745406517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177489 SCV000229357 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643147 SCV000764834 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381574 SCV002669226 uncertain significance Cardiovascular phenotype 2019-04-04 criteria provided, single submitter clinical testing The p.S24323N variant (also known as c.72968G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72968. The serine at codon 24323 is replaced by asparagine, an amino acid with highly similar 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.
Fulgent Genetics, Fulgent Genetics RCV002478585 SCV002777466 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 2021-09-01 criteria provided, single submitter clinical testing

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