ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)

gnomAD frequency: 0.00006  dbSNP: rs145560044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087046 SCV000286413 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000308363 SCV000333029 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000308363 SCV001795232 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408961 SCV002675582 uncertain significance Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The p.N26283K variant (also known as c.78849C>A), located in coding exon 185 of the TTN gene, results from a C to A substitution at nucleotide position 78849. The asparagine at codon 26283 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150136 SCV003838500 benign Cardiomyopathy 2021-08-27 criteria provided, single submitter clinical testing

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