ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly)

gnomAD frequency: 0.00004  dbSNP: rs201001270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619928 SCV000735550 uncertain significance Cardiovascular phenotype 2016-10-06 criteria provided, single submitter clinical testing The p.S9152G variant (also known as c.27454A>G), located in coding exon 109 of the TTN gene, results from an A to G substitution at nucleotide position 27454. The serine at codon 9152 is replaced by glycine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs201001270. Based on data from ExAC, the G allele has an overall frequency of <0.01% (4/105534). 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 RCV002483703 SCV002784955 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 2021-11-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003139936 SCV003818488 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing

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