ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=)

gnomAD frequency: 0.00004  dbSNP: rs397517592
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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 RCV000040290 SCV000063981 likely benign not specified 2013-02-27 criteria provided, single submitter clinical testing Tyr13522Tyr in exon 206 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 wi thin the splice consensus sequence. Tyr13522Tyr in exon 206 of TTN (allele fre quency = n/a)
GeneDx RCV001697104 SCV000718588 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643653 SCV000765340 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018900 SCV005020444 likely benign Cardiovascular phenotype 2023-11-21 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.
CeGaT Center for Human Genetics Tuebingen RCV001697104 SCV005331072 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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