ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)

gnomAD frequency: 0.00102  dbSNP: rs376917681
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Total submissions: 13
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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 RCV000040308 SCV000063999 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn14098Asn in exon 215 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (7/3114) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Asn14098Asn in exon 215 of TTN (a llele frequency = 0.2%, 7/3114) **
GeneDx RCV000040308 SCV000169285 benign not specified 2014-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456999 SCV000555380 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620519 SCV000735805 likely benign Cardiovascular phenotype 2017-03-15 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.
Eurofins Ntd Llc (ga) RCV000040308 SCV000855102 likely benign not specified 2017-09-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770019 SCV000901445 benign Cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839617 SCV002100593 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839618 SCV002100594 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839619 SCV002100595 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839616 SCV002100596 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001727543 SCV005259497 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000040308 SCV001925440 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727543 SCV001973766 likely benign not provided no assertion criteria provided clinical testing

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