ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51943G>A (p.Val17315Ile)

gnomAD frequency: 0.00003  dbSNP: rs778099881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593954 SCV001825177 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing 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 RCV002449389 SCV002735616 uncertain significance Cardiovascular phenotype 2019-10-08 criteria provided, single submitter clinical testing The p.V8250I variant (also known as c.24748G>A), located in coding exon 100 of the TTN gene, results from a G to A substitution at nucleotide position 24748. The valine at codon 8250 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001593954 SCV003819840 uncertain significance not provided 2023-01-18 criteria provided, single submitter clinical testing

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