ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)

gnomAD frequency: 0.00004  dbSNP: rs373502790
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Total submissions: 5
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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 RCV000040809 SCV000064500 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ser28842Ser in exon 289 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, and is not located w ithin the splice consensus sequence. It has been identified in 1/6608 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS;). Ser28842Ser in exon 289 of TTN (allele f requency = 1/6608) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000462203 SCV000555455 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362652 SCV002665947 likely benign Cardiovascular phenotype 2020-02-25 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.
Fulgent Genetics, Fulgent Genetics RCV002496651 SCV002808485 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 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710464 SCV005259373 likely benign not provided criteria provided, single submitter not provided

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