ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) (rs56173891)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617769 SCV000737117 uncertain significance Cardiovascular phenotype 2018-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000154873 SCV000615963 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723860 SCV000203662 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000154873 SCV000237904 likely benign not specified 2017-11-13 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 RCV000289664 SCV000420175 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342470 SCV000420176 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376165 SCV000420177 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284033 SCV000420178 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336674 SCV000420179 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405890 SCV000420180 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469646 SCV000555479 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154873 SCV000204555 uncertain significance not specified 2016-07-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Met31683Val v ariant in TTN has been identified by our laboratory in 4 individuals with differ ent cardiomyopathies (HCM, DCM, LVNC), one of whom also carried a likely pathoge nic variant in another gene. This variant has been identified in 0.1% (77/66684) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs56173891). Methionine (Met) at position 31683 is not well conserved in evolution and 1 mammal (chimp) carries the variant amino acid (Val), raising the possibility that this change may be tolerated. Additional co mputational prediction tools also suggest that this variant may not impact the p rotein, though this information is not predictive enough to rule out pathogenici ty. In summary, while the clinical significance of the p.Met31683Val variant is uncertain, these data suggest that it is more likely to be benign.
PreventionGenetics RCV000154873 SCV000315635 likely benign not specified criteria provided, single submitter clinical testing

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