ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1168G>A (p.Gly390Ser)

gnomAD frequency: 0.00001  dbSNP: rs794729412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184465 SCV000237101 uncertain significance not specified 2013-01-31 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).
CeGaT Center for Human Genetics Tuebingen RCV000513188 SCV000609011 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000513188 SCV001921786 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000513188 SCV001927171 uncertain significance not provided no assertion criteria provided clinical testing

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