ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)

gnomAD frequency: 0.00001  dbSNP: rs397517674
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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 RCV000040532 SCV000064223 likely benign not specified 2013-01-30 criteria provided, single submitter clinical testing Ser20164Ser in exon 269 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. Ser20164Ser in exon 269 of TTN (allele freq uency = n/a)
Invitae RCV001484114 SCV001688522 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001659980 SCV001881581 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001659980 SCV002063950 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343616 SCV004066486 likely benign Cardiovascular phenotype 2023-07-12 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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