ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)

dbSNP: rs746029667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176998 SCV001341103 uncertain significance Cardiomyopathy 2019-12-04 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 11 of the TMEM43 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251444 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function truncations in the TMEM43 gene is not clearly understood. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV003495234 SCV004275012 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu300*) in the TMEM43 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMEM43 cause disease. This variant is present in population databases (rs746029667, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TMEM43-related conditions. ClinVar contains an entry for this variant (Variation ID: 919072). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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