ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7436A>G (p.Tyr2479Cys)

dbSNP: rs1554000863
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617762 SCV000736748 uncertain significance Cardiovascular phenotype 2017-01-17 criteria provided, single submitter clinical testing The p.Y2433C variant (also known as c.7298A>G), located in coding exon 30 of the TTN gene, results from an A to G substitution at nucleotide position 7298. The tyrosine at codon 2433 is replaced by cysteine, an amino acid with highly dissimilar properties, and is located in the I-band region of the N2-B isoform of the titin protein. This amino acid position is well 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.

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