ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1045877862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620303 SCV000736523 uncertain significance Cardiovascular phenotype 2018-10-09 criteria provided, single submitter clinical testing The p.C21796Y variant (also known as c.65387G>A), located in coding exon 166 of the TTN gene, results from a G to A substitution at nucleotide position 65387. The cysteine at codon 21796 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000643200 SCV000764887 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-17 criteria provided, single submitter clinical testing

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