ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.763C>T (p.Leu255=)

gnomAD frequency: 0.00001  dbSNP: rs761968722
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825249 SCV000966534 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Leu255Leu variant in TMEM43 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2.
Color Diagnostics, LLC DBA Color Health RCV001176023 SCV001339836 likely benign Cardiomyopathy 2020-02-04 criteria provided, single submitter clinical testing
Invitae RCV001428157 SCV001630850 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390717 SCV002670686 likely benign Cardiovascular phenotype 2019-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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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