ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala)

gnomAD frequency: 0.00003  dbSNP: rs183595734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643033 SCV000764720 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343291 SCV002619359 uncertain significance Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing The p.V12157A variant (also known as c.36470T>C), located in coding exon 133 of the TTN gene, results from a T to C substitution at nucleotide position 36470. The valine at codon 12157 is replaced by alanine, an amino acid with 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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