ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)

gnomAD frequency: 0.00001  dbSNP: rs727505024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156450 SCV000206169 likely benign not specified 2014-04-02 criteria provided, single submitter clinical testing Val27680Ile in exon 284 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species including 10 mammals tha t have an isoleucine (Ile) at this position despite high nearby amino acid conse rvation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000544571 SCV000643879 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362831 SCV002657975 uncertain significance Cardiovascular phenotype 2019-04-16 criteria provided, single submitter clinical testing The p.V21183I variant (also known as c.63547G>A), located in coding exon 162 of the TTN gene, results from a G to A substitution at nucleotide position 63547. The valine at codon 21183 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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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