ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9519C>T (p.Asp3173=)

gnomAD frequency: 0.00005  dbSNP: rs151129843
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Total submissions: 8
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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 RCV000218938 SCV000271123 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Asp3173Asp in exon 41 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 0.4% (30/8582) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs151129843).
Ambry Genetics RCV000250605 SCV000318633 likely benign Cardiovascular phenotype 2013-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV001705200 SCV000529265 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461740 SCV000555584 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840373 SCV002100956 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840374 SCV002100957 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840375 SCV002100958 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840372 SCV002100959 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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