ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) (rs146353237)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152404 SCV000201419 benign not specified 2013-12-05 criteria provided, single submitter clinical testing Thr3940Thr in exon 50 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.4% (8/572) of East Asian chromosomes from a broad population by the 1000 Genomes Project (http://w ww.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs146353237).
Ambry Genetics RCV000248140 SCV000317980 likely benign Cardiovascular phenotype 2012-12-10 criteria provided, single submitter clinical testing
Invitae RCV001085199 SCV000555192 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769079 SCV000900452 benign Cardiomyopathy 2015-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000828804 SCV000970505 likely benign not provided 2018-03-16 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.
Illumina Clinical Services Laboratory,Illumina RCV001134553 SCV001294300 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2017-05-19 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 RCV001134554 SCV001294301 likely benign Limb-girdle muscular dystrophy, type 2J 2017-05-19 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 RCV001134555 SCV001294302 benign Tibial muscular dystrophy 2017-05-19 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 RCV001134556 SCV001294303 benign Myopathy, myofibrillar, 9, with early respiratory failure 2017-05-19 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 RCV001136340 SCV001296169 benign Dilated cardiomyopathy 1G 2017-05-19 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.

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