ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) (rs200971254)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040510 SCV000064201 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Arg19663His in exon 265 in TTN: This variant is not expected to have clinical significance because it has been identified in 0.4% (37/9764) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200971254).
GeneDx RCV000040510 SCV000236674 benign not specified 2014-10-07 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040510 SCV000335311 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Invitae RCV001082762 SCV000555578 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619559 SCV000736829 likely benign Cardiovascular phenotype 2018-12-13 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Athena Diagnostics Inc RCV000459532 SCV001146467 benign not provided 2019-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001132756 SCV001292427 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001132757 SCV001292428 benign Myopathy, myofibrillar, 9, with early respiratory failure 2017-09-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001136161 SCV001295983 likely benign Dilated cardiomyopathy 1G 2017-09-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001136162 SCV001295984 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001136163 SCV001295985 benign Tibial muscular dystrophy 2017-09-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170580 SCV001333168 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing

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