ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)

gnomAD frequency: 0.00006  dbSNP: rs199652273
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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 RCV000220148 SCV000271112 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg29234Arg in Exon 292 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6642 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
GeneDx RCV001697185 SCV000732678 likely benign not provided 2020-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643608 SCV000765295 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170759 SCV001333365 benign Cardiomyopathy 2018-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000220148 SCV001879723 benign not specified 2021-02-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840369 SCV002102116 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840370 SCV002102118 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840371 SCV002102119 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840368 SCV002102120 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697185 SCV002585832 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing TTN: BP4
Ambry Genetics RCV002363069 SCV002665228 benign Cardiovascular phenotype 2020-08-14 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.

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