ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66441C>T (p.Ala22147=)

gnomAD frequency: 0.00001  dbSNP: rs727503578
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Total submissions: 3
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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 RCV000152248 SCV000201062 likely benign not specified 2014-02-06 criteria provided, single submitter clinical testing Ala19579Ala in exon 264 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. Ala19579Ala in exon 264 of TTN (allele fr equency = n/a)
Invitae RCV001457549 SCV001661352 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372000 SCV002624913 likely benign Cardiovascular phenotype 2022-05-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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