ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64245G>T (p.Trp21415Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002348960 SCV002621336 uncertain significance Cardiovascular phenotype 2018-12-27 criteria provided, single submitter clinical testing The p.W12350C variant (also known as c.37050G>T), located in coding exon 135 of the TTN gene, results from a G to T substitution at nucleotide position 37050. The tryptophan at codon 12350 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 probably damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003327558 SCV004034421 uncertain significance not provided 2023-03-09 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

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