ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)

gnomAD frequency: 0.00006  dbSNP: rs773271774
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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 RCV000477328 SCV000542442 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714045 SCV000844709 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764334 SCV000895353 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000714045 SCV001769614 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32403337)
Ambry Genetics RCV002446774 SCV002733381 likely benign Cardiovascular phenotype 2020-09-10 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.

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