ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)

gnomAD frequency: 0.00030  dbSNP: rs72646870
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Total submissions: 7
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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 RCV000040508 SCV000064199 likely benign not specified 2012-08-08 criteria provided, single submitter clinical testing The Asp19657Asn variant in TTN has been identified in 4/8288 European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs72646870). The variant amino acid (asparagi ne, Asn) is present in other mammalian species, strongly suggesting that this ch ange does not impact the protein. While a modifying role of this variant cannot be ruled out it is likely benign when present in isolation.
GeneDx RCV000714072 SCV000237445 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473534 SCV000542430 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714072 SCV000844739 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000714072 SCV000855052 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371842 SCV002624978 likely benign Cardiovascular phenotype 2019-06-21 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.
Revvity Omics, Revvity RCV000714072 SCV003824836 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing

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