ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.83_87delinsAGGA (p.Arg28fs) (rs794729182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183959 SCV000236452 uncertain significance not provided 2014-04-10 criteria provided, single submitter clinical testing c.83_87delinsAGGA: p.Arg28GlnfsX22 (R28QfsX22) in exon 2 of the TMEM43 gene (NM_024334.2). The normal sequence with the bases that are deleted/inserted in braces is: GAAC{delGGCTGinsAGGA}AGCG.Although the c.83_87delinsAGGA variant in the TMEM43 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Arginine 28, changing it to a Glutamine, and creating a premature stop codon at position 22 of the new reading frame, denoted p.Arg28GlnfsX22. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Nevertheless, no other frameshift variants have been reported in the TMEM43 gene in association with ARVC. With the clinical and molecular information available at this time, we cannot definitively determine if c.83_87delinsAGGA is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).

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