ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)

gnomAD frequency: 0.00002  dbSNP: rs552531581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547366 SCV000642766 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605203 SCV000731590 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing p.Asp5177Asp in exon 63 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. It has been identified in 2/16406 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs552531581).
GeneDx RCV001591238 SCV001816975 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing

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