ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.65dup (p.Pro23fs) (rs1300909566)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550658 SCV000642105 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-01-19 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 2 of the TMEM43 mRNA (c.65dupA), causing a frameshift at codon 23. This creates a premature translational stop signal (p.Pro23Alafs*32) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TMEM43-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMEM43 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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