ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) (rs199632397)

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Total submissions: 15
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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 RCV000172600 SCV000051628 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000222652 SCV000237965 likely benign not specified 2017-04-24 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222652 SCV000272837 uncertain significance not specified 2017-07-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu32991Gln v ariant has been identified by our laboratory in 1 Caucasian individual with idio pathic cardiomyopathy and in 0.1% (34/30728) of South Asian chromosomes by the G enome Aggreagation Database (gnomAD, http://gnomad.broadinstitute.org/, dbSNP rs 199632397). This variant was also identified in a 23-year-old female who died su ddenly; however, the specific cause of her death was unexplained even after auto psy (Sanchez 2016). This variant has also been reported in ClinVar (Variation ID 192135). Computational prediction tools and conservation analysis suggest that the p.Glu32991Gln variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Glu32991Gln variant is uncertain, its frequency suggests that it is more likely to be benign.
Ambry Genetics RCV000246902 SCV000318260 uncertain significance Cardiovascular phenotype 2013-02-14 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222652 SCV000334023 likely benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301237 SCV000419875 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356307 SCV000419876 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266285 SCV000419877 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321269 SCV000419878 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380571 SCV000419879 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266936 SCV000419880 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469383 SCV000542707 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622328 SCV000741111 uncertain significance Inborn genetic diseases 2018-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769843 SCV000901269 uncertain significance Cardiomyopathy 2017-02-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172600 SCV001152561 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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