ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser)

gnomAD frequency: 0.00004  dbSNP: rs781452930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466348 SCV000542598 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593502 SCV000701885 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618374 SCV000737109 uncertain significance Cardiovascular phenotype 2016-07-12 criteria provided, single submitter clinical testing The p.G5284S variant (also known as c.15850G>A), located in coding exon 60 of the TTN gene, results from a G to A substitution at nucleotide position 15850. This alteration is located in the I-band region of the N2-B isoform of the titin protein. The glycine at codon 5284 is replaced by serine, an amino acid with similar properties. Based on data from ExAC, the A allele has an overall frequency of less than 0.01% (2/104876). This amino acid position is highly conserved through mammals but not in all 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.
Revvity Omics, Revvity RCV000593502 SCV003825552 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing

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