ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9468T>A (p.Val3156=)

gnomAD frequency: 0.00001  dbSNP: rs879192388
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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) RCV000729984 SCV000857690 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067104 SCV002456972 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369993 SCV002686759 uncertain significance Cardiovascular phenotype 2022-07-14 criteria provided, single submitter clinical testing The c.9330T>A variant (also known as p.V3110V), located in coding exon 38 of the TTN gene, results from a T to A substitution at nucleotide position 9330. This nucleotide substitution does not change the valine at codon 3110. This nucleotide position is not 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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