ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47265A>G (p.Lys15755=)

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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 RCV004508568 SCV005020442 uncertain significance Cardiovascular phenotype 2023-10-11 criteria provided, single submitter clinical testing The c.20070A>G variant (also known as p.K6690K), located in coding exon 79 of the TTN gene, results from an A to G substitution at nucleotide position 20070. This nucleotide substitution does not change the lysine at codon 6690. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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