ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val)

gnomAD frequency: 0.00003  dbSNP: rs368484949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176827 SCV000228571 uncertain significance not provided 2015-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176827 SCV001962325 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336430 SCV002640638 uncertain significance Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing The p.A17429V variant (also known as c.52286C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 52286. The alanine at codon 17429 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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 RCV002485150 SCV002782343 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 2021-09-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176827 SCV003824750 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing

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