ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)

gnomAD frequency: 0.00003  dbSNP: rs769162510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241955 SCV000320171 uncertain significance Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing The p.C19927R variant (also known as c.59779T>C), located in coding exon 154 of the TTN gene, results from a T to C substitution at nucleotide position 59779. The cysteine at codon 19927 is replaced by arginine, an amino acid with highly dissimilar properties. Based on data from ExAC, the C allele was reported in 2 of 120394 total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed September 29, 2015]). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6028 samples (12056 alleles) with coverage at this position. 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 variant remains unclear.
Invitae RCV000643459 SCV000765146 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503965 SCV002812308 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 2021-08-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226268 SCV003923251 uncertain significance not specified 2023-03-20 criteria provided, single submitter clinical testing

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