ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.152A>G (p.Glu51Gly)

gnomAD frequency: 0.00002  dbSNP: rs863224185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200441 SCV000252181 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing p.Glu51Gly (GAA>GGA): c.152 A>G in exon 3 of the RARS2 gene (NM_020320.3) A variant of unknown significance has been identified in the RARS2 gene. The E51G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E51G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is moderately conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001273019 SCV001455547 uncertain significance Pontocerebellar hypoplasia type 6 2020-09-16 no assertion criteria provided clinical testing

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