ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)

gnomAD frequency: 0.00201  dbSNP: rs145520397
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000040272 SCV000051438 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040272 SCV000063963 benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Ala12997Ser in exon 199 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (150/23938) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs145520397). BA1
Eurofins Ntd Llc (ga) RCV000040272 SCV000226994 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV001703900 SCV000237204 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000234556 SCV000286678 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243631 SCV000318789 likely benign Cardiovascular phenotype 2013-07-15 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770023 SCV000901449 benign Cardiomyopathy 2016-08-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839613 SCV002100656 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839614 SCV002100657 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839615 SCV002100658 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839612 SCV002100659 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040272 SCV004038599 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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