ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile)

dbSNP: rs1060500596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476964 SCV000543172 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451077 SCV002613378 uncertain significance Cardiovascular phenotype 2020-03-05 criteria provided, single submitter clinical testing The p.M11958I variant (also known as c.35874G>C), located in coding exon 131 of the TTN gene, results from a G to C substitution at nucleotide position 35874. The methionine at codon 11958 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.

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