ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88146G>C (p.Trp29382Cys)

gnomAD frequency: 0.00001  dbSNP: rs937554101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507586 SCV001713217 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359138 SCV002658012 uncertain significance Cardiovascular phenotype 2020-03-18 criteria provided, single submitter clinical testing The p.W20317C variant (also known as c.60951G>C), located in coding exon 157 of the TTN gene, results from a G to C substitution at nucleotide position 60951. The tryptophan at codon 20317 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.

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