ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)

gnomAD frequency: 0.00002  dbSNP: rs55880786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468098 SCV000543082 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379418 SCV002672925 uncertain significance Cardiovascular phenotype 2019-08-12 criteria provided, single submitter clinical testing The p.G24308S variant (also known as c.72922G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72922. The glycine at codon 24308 is replaced by serine, an amino acid with similar 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 RCV002480357 SCV002794299 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 2021-08-09 criteria provided, single submitter clinical testing

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