ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)

gnomAD frequency: 0.00002  dbSNP: rs532872056
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Total submissions: 6
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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 RCV000152049 SCV000200646 benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Thr277Ser variant in TMEM43 is classified as benign because it has been identified in 0.6% (198/30616) of South Asian chromosomes, including 1 homozygote, by gnomAD ( http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV000152049 SCV000236453 likely benign not specified 2016-07-08 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 RCV000861886 SCV001002300 benign Arrhythmogenic right ventricular dysplasia 5 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190171 SCV001357601 benign Cardiomyopathy 2018-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152049 SCV002103984 likely benign not specified 2022-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426722 SCV002679271 likely benign Cardiovascular phenotype 2020-07-22 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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