ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) (rs183276016)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620279 SCV000736048 uncertain significance Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725486 SCV000337254 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765557 SCV000896872 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000725486 SCV000980925 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000226664 SCV000286787 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000304565 SCV000710951 uncertain significance not specified 2018-01-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala19576Thr v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.06% (19/34344) of Latino chromosomes, 0.04% (9/2 4000) of African chromosomes, and 0.04% (45/126096) of European chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs183276016). It has been also reported in ClinVar (Variation ID:238827). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical signifi cance of the p.Ala19576Thr variant is uncertain, its frequency suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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