ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) (rs150425166)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252433 SCV000320262 uncertain significance Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000227309 SCV000290717 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 5 2018-01-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 162 of the TMEM43 protein (p.Asp162Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs150425166, ExAC 0.1%) but has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 178140). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154855 SCV000204537 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp162Asn varia nt in TMEM43 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.2% (7/4406) of African American chromosomes by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs150 425166). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the c linical significance of the Asp162Asn variant is uncertain, its frequency sugges ts that it is more likely to be benign.

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