ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1108-3C>G

gnomAD frequency: 0.00001  dbSNP: rs1001100248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667567 SCV000792041 uncertain significance Metachromatic leukodystrophy 2017-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667567 SCV002291102 pathogenic Metachromatic leukodystrophy 2024-08-17 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the ARSA gene. It does not directly change the encoded amino acid sequence of the ARSA protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individual(s) with metachromatic leukodystrophy (PMID: 18693274, 26462614, 31922725). This variant is also known as c.1102-3C>G. ClinVar contains an entry for this variant (Variation ID: 552329). 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 skipping of exon 7 and activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (Invitae). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000667567 SCV005656798 pathogenic Metachromatic leukodystrophy 2024-05-23 criteria provided, single submitter clinical testing
Gelb Laboratory, University of Washington RCV000667567 SCV005046718 not provided Metachromatic leukodystrophy no assertion provided in vitro

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