ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn)

gnomAD frequency: 0.00003  dbSNP: rs776913696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234022 SCV000286386 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002378980 SCV002672112 uncertain significance Cardiovascular phenotype 2020-07-21 criteria provided, single submitter clinical testing The p.K24615N variant (also known as c.73845G>T), located in coding exon 185 of the TTN gene, results from a G to T substitution at nucleotide position 73845. The lysine at codon 24615 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well 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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