ClinVar Miner

Submissions for variant NM_006567.4(FARS2):c.550G>A (p.Asp184Asn) (rs554931092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199293 SCV000251380 likely pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing p.Asp184Asn (GAC>AAC): c.550 G>A in exon 2 of the FARS2 gene (NM_006567.3). The D184N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D184N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is highly conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000535882 SCV000652847 uncertain significance Combined oxidative phosphorylation deficiency 14 2018-05-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 184 of the FARS2 protein (p.Asp184Asn). 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 (rs554931092, ExAC 0.1%). This variant has not been reported in the literature in individuals with FARS2-related disease. ClinVar contains an entry for this variant (Variation ID: 214340). 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: "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.
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine RCV000535882 SCV000845682 uncertain significance Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing

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