ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)

gnomAD frequency: 0.00001  dbSNP: rs545806408
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Total submissions: 11
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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 RCV000155966 SCV000205678 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Ala11369Val in exon 176 of TTN: This variant is not expected to have clinical significance it has been identified in 0.41% (49/11954) of South Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
GeneDx RCV000155966 SCV000725806 likely benign not specified 2017-12-13 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 RCV000642849 SCV000764536 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171016 SCV001333685 benign Cardiomyopathy 2018-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840176 SCV002101183 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840177 SCV002101184 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840178 SCV002101185 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840175 SCV002101186 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390362 SCV002701954 benign Cardiovascular phenotype 2020-09-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002498761 SCV002812568 likely benign 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 2022-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535004 SCV004716485 likely benign TTN-related disorder 2022-12-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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