ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)

gnomAD frequency: 0.00004  dbSNP: rs772625773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520795 SCV000620645 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000643535 SCV000765222 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336909 SCV001530429 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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