ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.110+5A>G

dbSNP: rs63749985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093189 SCV001250047 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093189 SCV001392766 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the RARS2 gene. It does not directly change the encoded amino acid sequence of the RARS2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs63749985, gnomAD 0.003%). This variant has been observed in individuals with pontocerebellar hypoplasia (PMID: 17847012, 26970947). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS2+5A>G. ClinVar contains an entry for this variant (Variation ID: 891). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in exon 2 skipping and introduces a premature termination codon (PMID: 17847012). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000939 SCV002779363 pathogenic Pontocerebellar hypoplasia type 6 2022-04-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000000939 SCV004208435 pathogenic Pontocerebellar hypoplasia type 6 2023-07-25 criteria provided, single submitter clinical testing
OMIM RCV000000939 SCV000021089 pathogenic Pontocerebellar hypoplasia type 6 2007-10-01 no assertion criteria provided literature only

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