ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9533A>T (p.His3178Leu)

dbSNP: rs1334781459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533200 SCV000643941 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623637 SCV000740878 uncertain significance Inborn genetic diseases 2015-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448715 SCV002682433 uncertain significance Cardiovascular phenotype 2020-05-11 criteria provided, single submitter clinical testing The p.H3132L variant (also known as c.9395A>T), located in coding exon 39 of the TTN gene, results from an A to T substitution at nucleotide position 9395. The histidine at codon 3132 is replaced by leucine, 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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