ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1724dup (p.Cys576fs)

gnomAD frequency: 0.00001  dbSNP: rs863224184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198541 SCV000252180 uncertain significance not specified 2013-11-11 criteria provided, single submitter clinical testing c.1724dupT: p.Cys576MetfsX2 (C576MfsX2) in exon 20 of the RARS2 gene (NM_020320.3). The normal sequence with the base that is duplicated in braces is: CCTG{T}ATGT. A variant of unknown significance has been identified in the RARS2 gene. The c.1724dupT sequence change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1724dupT variant causes a frameshift starting with codon Cysteine 576, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Cys576MetfsX2. This variant may cause loss of normal protein function through protein truncation; however, the introduction of the Stop codon occurs at the 3' end of the RARS2 gene. The effect of introducing a premature Stop codon so close to the end of the RARS2 gene is not known. Therefore, based on the currently available information, it is unclear whether c.1724dupT is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001833152 SCV002079889 uncertain significance Pontocerebellar hypoplasia type 6 2020-10-01 no assertion criteria provided clinical testing

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