ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) (rs533275736)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085226 SCV000290718 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000498764 SCV000589416 uncertain significance not provided 2019-01-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TMEM43 gene. The P231L variant has not been published as pathogenic or been reported as benign to our knowledge. The P231L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Moreover, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, this variant is observed in 28/33,580 alleles (0.08%) from individuals of Latino ancestry in large population cohorts (Lek et al., 2016).
Ambry Genetics RCV000621860 SCV000736112 uncertain significance Cardiovascular phenotype 2017-11-20 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV001190660 SCV001358214 likely benign Cardiomyopathy 2019-10-31 criteria provided, single submitter clinical testing

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