ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val)

gnomAD frequency: 0.00001  dbSNP: rs372075164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592978 SCV000706758 uncertain significance not provided 2017-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794142 SCV000933532 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 32598 of the TTN protein (p.Ile32598Val). There is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs372075164, ExAC 0.01%). This variant has not been reported in the literature in individuals with TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 500701). This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002368023 SCV002662365 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.I23533V variant (also known as c.70597A>G), located in coding exon 177 of the TTN gene, results from an A to G substitution at nucleotide position 70597. The isoleucine at codon 23533 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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.

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