ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) (rs774153480)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169193 SCV000220440 likely pathogenic Metachromatic leukodystrophy 2014-06-20 criteria provided, single submitter literature only
GeneDx RCV001008371 SCV001168139 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The c.1489_1492dupCCCC pathogenic variant in the ARSA gene has been reported previously in association with MLD in an individual who was also compound heterozygous for another variant in ARSA (Coulter-Mackie et al., 2003). The duplication causes a frameshift starting with codon Arginine 498, changes this amino acid to a Proline residue and creates a Stop codon at position 76 of the new reading frame, denoted p.Arg498ProfsX76. The c.1489_1492dupCCCC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we interpret c.1489_1492dupCCCC to be a pathogenic variant.

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