ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.578C>T (p.Ser193Leu) (rs140380494)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557363 SCV000642103 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 193 of the TMEM43 protein (p.Ser193Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with congenital myopathy or hypertrophic cardiomyopathy (PMID: 25214167, 30206291). ClinVar contains an entry for this variant (Variation ID: 466421). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Integrated Genetics/Laboratory Corporation of America RCV000589235 SCV000699489 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing Variant summary: The TMEM43 c.578C>T (p.Ser193Leu) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 121408 control chromosomes. The variant was reported once in the literature, to our knowledge, without strong evidence for causality. The variant has not been reported in databases or clinical diagnostic labs. Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS), until additional evidence becomes available.
Color RCV001178823 SCV001343357 uncertain significance Cardiomyopathy 2019-10-30 criteria provided, single submitter clinical testing

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