ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)

gnomAD frequency: 0.00003  dbSNP: rs377456237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763128 SCV001991707 uncertain significance not provided 2024-09-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002370283 SCV002671468 uncertain significance Cardiovascular phenotype 2020-08-31 criteria provided, single submitter clinical testing The p.Y24186C variant (also known as c.72557A>G), located in coding exon 182 of the TTN gene, results from an A to G substitution at nucleotide position 72557. The tyrosine at codon 24186 is replaced by cysteine, 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 RCV002488557 SCV002789705 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 2021-10-19 criteria provided, single submitter clinical testing

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