ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)

gnomAD frequency: 0.00001  dbSNP: rs727504776
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Total submissions: 4
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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 RCV000156093 SCV000205806 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing p.Ala5479Ala in exon 66 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 2/66616 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
GeneDx RCV000156093 SCV000532409 likely benign not specified 2016-10-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001498761 SCV001703514 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137675 SCV003825916 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing

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