ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1511+3A>G

dbSNP: rs886061821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000280406 SCV000465734 uncertain significance Pontocerebellar hypoplasia type 6 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000280406 SCV002768036 uncertain significance Pontocerebellar hypoplasia type 6 2019-08-28 criteria provided, single submitter clinical testing A heterozygous splice site variant was identified, NM_020320.4(RARS2):c.1511+3A>G in intron 17 of 19 of the RARS2 gene. This substitution may cause aberrant splicing of exon 17 in the RARS2 gene, and potentially affect protein function; further testing via RNA studies are required to confirm if splicing is altered. The nucleotide at this position has moderate conservation (PhyloP, UCSC). In silico software for this variant is conflicting (NetGene2, NNSPLICE, Human Splicing Finder). The variant is not present in the gnomAD population database. It has not been previously observed in clinical cases. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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