ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) (rs375266859)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040090 SCV000063781 uncertain significance not specified 2012-07-02 criteria provided, single submitter clinical testing The Arg8500Cys variant in TTN has not been reported in the literature, but has b een identified in 1 individual with DCM tested by our laboratory. This variant h as not been identified in a very large and broad population by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS). This low frequency is cons istent with a disease causing role, but insufficient to establish this with conf idence. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the cli nical significance of the Arg8500Cys variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415299 SCV000492926 likely benign Sudden cardiac death; Cardiac arrest 2014-01-08 criteria provided, single submitter clinical testing
Invitae RCV000530713 SCV000642942 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730819 SCV000858583 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769897 SCV000901323 uncertain significance Cardiomyopathy 2016-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001134853 SCV001294612 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001134854 SCV001294613 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001134855 SCV001294614 likely benign Tibial muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001134856 SCV001294615 benign Myopathy, myofibrillar, 9, with early respiratory failure 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001134857 SCV001294616 uncertain significance Dilated cardiomyopathy 1G 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001134855 SCV001369269 likely benign Tibial muscular dystrophy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely benign.
GeneDx RCV000730819 SCV001771753 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19608031)

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