ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)

gnomAD frequency: 0.00003  dbSNP: rs768575577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560161 SCV000642548 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404460 SCV002669458 uncertain significance Cardiovascular phenotype 2019-09-04 criteria provided, single submitter clinical testing The p.R25571C variant (also known as c.76711C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 76711. The arginine at codon 25571 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly 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 RCV002483427 SCV002775560 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 2021-09-10 criteria provided, single submitter clinical testing

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