ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)

gnomAD frequency: 0.00002  dbSNP: rs757653038
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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 RCV000617568 SCV000737077 uncertain significance Cardiovascular phenotype 2016-03-26 criteria provided, single submitter clinical testing The p.R19374W variant (also known as c.58120C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 58120, and is located in the A-band region of the titin protein. The arginine at codon 19374 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from ExAC, the T allele was reported in 2 of 120170 (0.002%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed March 24, 2016]). 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 6097 samples (12194 alleles) with coverage at this position. This amino acid position is well 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.
Invitae RCV000643892 SCV000765579 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477349 SCV002790582 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 2021-07-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488730 SCV004237432 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing

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