ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)

gnomAD frequency: 0.00009  dbSNP: rs144639994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184111 SCV000236670 benign not specified 2014-11-07 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 RCV001086311 SCV000642815 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000184111 SCV000857372 likely benign not specified 2017-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000552070 SCV001153196 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415792 SCV002725794 benign Cardiovascular phenotype 2020-06-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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