ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) (rs376616067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473870 SCV000542533 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001712415 SCV000730419 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617756 SCV000736493 uncertain significance Cardiovascular phenotype 2018-11-15 criteria provided, single submitter clinical testing The p.Y18497H variant (also known as c.55489T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 55489. The tyrosine at codon 18497 is replaced by histidine, an amino acid with some 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 variant remains unclear.

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