ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)

gnomAD frequency: 0.00004  dbSNP: rs781076407
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232278 SCV000286849 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000263994 SCV000345331 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000263994 SCV002501273 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347879 SCV002641697 uncertain significance Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing The p.D17592Y variant (also known as c.52774G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 52774. The aspartic acid at codon 17592 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002487062 SCV002776626 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 2021-09-13 criteria provided, single submitter clinical testing

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