ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) (rs757082154)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414850 SCV000492678 likely pathogenic Muscular Diseases; Rimmed vacuoles; Lower limb muscle weakness 2016-01-04 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415078 SCV000492942 uncertain significance Limb-girdle muscle weakness; Limb-girdle muscle atrophy 2014-10-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414825 SCV000492944 likely pathogenic Limb-girdle muscular dystrophy; Muscular dystrophy; Waddling gait; Proximal lower limb amyotrophy; Decreased patellar reflex 2015-02-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735131 SCV000863331 pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000184398 SCV000237023 uncertain significance not specified 2015-05-22 criteria provided, single submitter clinical testing p.Gln34238Ter (CAA>TAA): c.102712 C>T in exon 312 of the TTN gene (NM_001256850.1) A variant of unknown significance has been identified in the TTN gene. The Q34238X variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Q34238X variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Q34238X is predicted to cause loss of normal protein function by protein truncation. However, this variant is not located in the A-band region of titin, where the majority of mutations associated with DCM have been reported (Herman D et al., 2012). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714745 SCV000845473 pathogenic TTN-Related Disorders 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714746 SCV000845474 pathogenic Lower limb muscle weakness 2018-08-07 criteria provided, single submitter clinical testing

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