ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)

gnomAD frequency: 0.00002  dbSNP: rs188071134
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152413 SCV000201442 likely benign not specified 2014-08-13 criteria provided, single submitter clinical testing Gln4356Gln in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/120 Colombian chr omosomes and 1/176 Nigerian chromosomes by the 1000 Genomes Project (dbSNP rs188 071134).
Labcorp Genetics (formerly Invitae), Labcorp RCV000643700 SCV000765387 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770105 SCV000901531 uncertain significance Cardiomyopathy 2016-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001569296 SCV001793342 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444630 SCV002682635 likely benign Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001569296 SCV004033832 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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