ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly)

gnomAD frequency: 0.00001  dbSNP: rs564287456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621619 SCV000736876 uncertain significance Cardiovascular phenotype 2017-07-17 criteria provided, single submitter clinical testing The p.E4212G variant (also known as c.12635A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 12635. The glutamic acid at codon 4212 is replaced by glycine, an amino acid with some similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other 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 RCV002477346 SCV002786062 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 2021-09-21 criteria provided, single submitter clinical testing

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