ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)

gnomAD frequency: 0.00002  dbSNP: rs751046367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643315 SCV000765002 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343293 SCV002619721 uncertain significance Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing The p.D12541H variant (also known as c.37621G>C), located in coding exon 137 of the TTN gene, results from a G to C substitution at nucleotide position 37621. The aspartic acid at codon 12541 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509488 SCV002819879 uncertain significance not specified 2022-12-04 criteria provided, single submitter clinical testing

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