ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)

gnomAD frequency: 0.00018  dbSNP: rs72646853
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Total submissions: 21
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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 RCV000154933 SCV000204615 benign not specified 2018-11-09 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000726451 SCV000236870 benign not provided 2021-02-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24980681, 31402444, 23299917, 21810661, 25157032, 26187847, 25214167)
Ambry Genetics RCV000243930 SCV000318746 benign Cardiovascular phenotype 2020-05-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Eurofins Ntd Llc (ga) RCV000726451 SCV000344727 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Invitae RCV001086769 SCV000555153 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726451 SCV001146456 benign not provided 2019-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726451 SCV001152819 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: BS2
Illumina Laboratory Services, Illumina RCV001133876 SCV001293590 uncertain significance Autosomal recessive 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001133877 SCV001293591 benign Myopathy, myofibrillar, 9, with early respiratory failure 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001133878 SCV001293592 uncertain significance Early-onset myopathy 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001133879 SCV001293593 uncertain significance Dilated cardiomyopathy 1G 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001133880 SCV001293594 benign Tibial muscular dystrophy 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170815 SCV001333433 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293232 SCV001434231 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV001358656 SCV001548559 uncertain significance Tip-toe gait 2020-11-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154933 SCV003934106 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000154933 SCV001921537 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726451 SCV001954026 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726451 SCV001968326 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726451 SCV001978143 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000726451 SCV002035993 likely benign not provided no assertion criteria provided clinical testing

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