ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)

dbSNP: rs374913031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533551 SCV000643689 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001563336 SCV001786258 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002341354 SCV002642126 uncertain significance Cardiovascular phenotype 2019-11-11 criteria provided, single submitter clinical testing The p.T16536M variant (also known as c.49607C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 49607. The threonine at codon 16536 is replaced by methionine, 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.

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