ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.654C>G (p.Ile218Met)

dbSNP: rs755270250
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185430 SCV001351629 uncertain significance Cardiomyopathy 2021-10-13 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with methionine at codon 218 of the TMEM43 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/251322 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.

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