ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) (rs147580753)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040442 SCV000064133 likely benign not specified 2013-02-22 criteria provided, single submitter clinical testing Asn17873Ser in exon 253 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3832) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs147580753) and in 1/176 chromosomes from a population of Yoruba individuals by the 1000 Genomes project (dbSNP rs147580753 ). Asn17873Ser in exon 253 of TTN (rs147580753; allele frequency = 0.3%, 10/38 32) **
Genetic Services Laboratory, University of Chicago RCV000118772 SCV000153316 uncertain significance not provided 2014-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000118772 SCV000237375 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing
Invitae RCV001086533 SCV000286762 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118772 SCV000701231 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617338 SCV000736496 likely benign Cardiovascular phenotype 2018-08-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285997 SCV001472513 uncertain significance none provided 2019-12-27 criteria provided, single submitter clinical testing The TTN c.61322A>G; p.Asn20441Ser variant (rs147580753), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 47172). This variant is found in the African population with an allele frequency of 0.4% (89/24,110 alleles, including 2 homozygotes) in the Genome Aggregation Database. The asparagine at codon 20441 is moderately conserved, however computational analyses predict that this variant may impact splicing by creating a novel cryptic donor splice site weakening the nearby canonical splice site (Alamut v.2.11). Due to limited information, the clinical significance of the p.Asn20441Ser variant is uncertain at this time. Pathogenic variants in the TTN gene are inherited both in an autosomal dominant and autosomal recessive manner and have been reported to cause a wide range of clinical phenotypes. TTN-associated conditions with cardiac manifestations include autosomal dominant dilated cardiomyopathy 1G (MIM: 604145), autosomal dominant familial hypertrophic cardiomyopathy 9 (MIM: 613765), and autosomal recessive Salih myopathy (MIM: 611705). Other genetic and/or environmental factors may influence the clinical phenotype. For recent information about properties and function of the titin protein see review authored by Linke and Hamdani (2014). References: Linke and Hamdani. Gigantic business: titin properties and function through thick and thin. Circ Res 2014; 114(6): 1052-1068.

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