ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69045G>A (p.Ala23015=)

gnomAD frequency: 0.00004  dbSNP: rs759122929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389875 SCV000341526 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398737 SCV001600512 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678663 SCV005180542 uncertain significance Cardiovascular phenotype 2024-04-11 criteria provided, single submitter clinical testing The c.41850G>A variant (also known as p.A13950A), located in coding exon 151 of the TTN gene, results from a G to A substitution at nucleotide position 41850. This nucleotide substitution does not change the alanine at codon 13950. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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