ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.772C>T (p.Arg258Cys)

dbSNP: rs863224186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196151 SCV000252182 likely pathogenic not provided 2013-01-25 criteria provided, single submitter clinical testing p.Arg258Cys (CGT>TGT): c.772 C>T in exon 10 of the RARS2 gene (NM_020320.3) A R258C missense change that is likely pathogenic was identified in the RARS2 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Arginine residue is replaced by an uncharged Cysteine residue. This change occurs at a position in the RARS2 protein that is conserved in mammals and multiple in-silico analysis programs predict that R258C is damaging to the RARS2 protein. Therefore, R258C is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Palindrome, Gene Kavoshgaran Aria RCV004577946 SCV005062031 pathogenic Pontocerebellar hypoplasia type 6 2024-06-07 criteria provided, single submitter clinical testing

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