ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) (rs140319117)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154875 SCV000204557 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing p.Arg31523Trp in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (33/10126) of Ashkenazi Jewi sh chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org/; dbSNP rs140319117).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713953 SCV000229375 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000154875 SCV000236911 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing p.Arg32450Trp (CGG>TGG): c.97348 C>T in exon 308 of the TTN gene (NM_001256850.1). The R32450W variant in the TTN gene has been published in two Swedish families with Hereditary Myopathy with Early Respiratory Failure (HMERF) (reported as R279W) (Lange S et al., 2005). HMERF is an autosomal dominant adult-onset myopathy with early respiratory muscle involvement, proximal weakness of the upper and lower extremities. To our knowledge, no cardiomyopathy has been reported in HMERF. Lange S et al., reported that R32450W occurs in the Kinase domain of the titin protein, at a residue that is conserved across evolution. However, the NHLBI Exome Sequencing Project reports R32450W was observed in 13/8,276 alleles from individuals of European background, and this variant is listed in 1000 genomes in 2/756 European alleles, indicating this change may be a benign variant in this population. 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 DCM,CARDIOMYOPATHY,DCM-CRDM panel(s).
Invitae RCV000713953 SCV000555083 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621822 SCV000735076 uncertain significance Cardiovascular phenotype 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Athena Diagnostics Inc RCV000713953 SCV000844602 likely benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852776 SCV000995499 likely benign Heart failure; Dilated cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing
GeneReviews RCV000119019 SCV000153721 uncertain significance Hereditary myopathy with early respiratory failure 2014-02-27 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509179 SCV000607067 not provided Distal myopathy Markesbery-Griggs type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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