ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) (rs75686037)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622235 SCV000735319 benign Cardiovascular phenotype 2016-02-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040428 SCV000203754 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000040428 SCV000169509 benign not specified 2014-01-27 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 RCV000330354 SCV000424982 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389534 SCV000424983 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295458 SCV000424984 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336431 SCV000424985 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393832 SCV000424986 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282554 SCV000424987 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204093 SCV000261363 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040428 SCV000064119 benign not specified 2013-11-12 criteria provided, single submitter clinical testing Pro1744Leu in exon 28 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 7% (9/128) of Mexican chromosomes and 3% (16/572) of Asian chromosomes by the 1000 Genomes project (dbSNP rs75686037) . Pro1744Leu in exon 28 of TTN (rs75686037; allele frequency = 2.8%, 16/572)
PreventionGenetics RCV000040428 SCV000315521 benign not specified criteria provided, single submitter clinical testing

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