ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)

gnomAD frequency: 0.00094  dbSNP: rs72677243
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172665 SCV000051471 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000040295 SCV000063986 uncertain significance not specified 2016-11-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile13750Thr v ariant in TTN has been identified by our laboratory in several individuals with various types of cardiomyopathy, did not segregate with disease in 1 relative wi th HCM, and has been identified in 0.2% (119/66356) of European chromosomes, inc luding 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs72677243). Computational prediction tools and conservati on analysis suggest that the p.Ile13750Thr variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, while the clinical significance of the p.Ile13750Thr variant is uncertain, i ts frequency suggests that it is more likely to be benign.
GeneDx RCV000172665 SCV000237240 benign not provided 2020-09-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28144010, 27488758)
Genetic Services Laboratory,University of Chicago RCV000040295 SCV000249260 likely benign not specified 2015-03-09 criteria provided, single submitter clinical testing
Invitae RCV001083138 SCV000286693 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247886 SCV000318300 uncertain significance Cardiovascular phenotype 2013-02-07 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Eurofins NTD LLC (GA) RCV000172665 SCV000332602 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172665 SCV000844708 benign not provided 2018-02-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768997 SCV000900370 benign Cardiomyopathy 2019-06-24 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000768997 SCV000995581 benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001130555 SCV001290135 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2017-05-08 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 Laboratory Services,Illumina RCV000655929 SCV001290136 benign Tibial muscular dystrophy 2017-05-08 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 Laboratory Services,Illumina RCV001131280 SCV001290896 benign Myopathy, myofibrillar, 9, with early respiratory failure 2017-05-08 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 Laboratory Services,Illumina RCV001131281 SCV001290897 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-27 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 Laboratory Services,Illumina RCV001131282 SCV001290898 benign Dilated cardiomyopathy 1G 2017-05-08 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.
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital RCV000040295 SCV001984158 likely benign not specified 2019-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172665 SCV002496590 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000655929 SCV000747737 uncertain significance Tibial muscular dystrophy 2014-07-07 no assertion criteria provided clinical testing The observed variant c.22334T>C (p.I7445T) is reported in 1000 Genomes and ExAC databases with a minor allele frequency of 0.0004 and 0.0012 respectively. The in silico prediction of the above variant is disease causing by MutationTaster2, tolerated by SIFT and probably damaging by PolyPhen2.

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