ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn)

gnomAD frequency: 0.00001  dbSNP: rs200101535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197332 SCV000252168 uncertain significance not provided 2013-06-19 criteria provided, single submitter clinical testing p.Lys362Asn (AAG>AAT): c.1086 G>T in exon 13 of the RARS2 gene (NM_020320.3) A variant of unknown significance has been identified in the RARS2 gene. The K362N missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. K362N is a non-conservative amino acid substitution as a positively charged Lysine residue is replaced with an uncharged Asparagine residue. However, this substitution occurs at a position in the RARS2 protein that is poorly conserved across species. In silico algorithms are not consistent in their prediction of whether or not K362N is damaging to the structure/function of the RARS2 protein. Therefore, based on the currently available information, it is unclear whether K362N is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001828031 SCV002079899 uncertain significance Pontocerebellar hypoplasia type 6 2019-11-11 no assertion criteria provided clinical testing

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