ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) (rs727503577)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724292 SCV000228413 uncertain significance not provided 2014-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343431 SCV000422137 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405984 SCV000422138 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308543 SCV000422139 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365300 SCV000422140 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402985 SCV000422141 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311951 SCV000422142 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152246 SCV000201055 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Lys19800Asn variant in TTN has been identified by our laboratory in 1 adult with HCM and in 1 infant with HCM, LVNC, CHD, and other syndromic features (LMM unpublished data). This variant has not been identified in large and broad Europ ean American and African American populations by the NHLBI Exome Sequencing Proj ect (http://evs.gs.washington.edu/EVS), though it may be present in other popula tions. Lysine (Lys) at position 19800 is not conserved in mammals, suggesting th at a change at this position may be tolerated. Additional computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not prov ide strong support for or against an impact to the protein. Additional studies a re needed to fully assess the clinical significance of this variant.

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