ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) (rs766772376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519216 SCV000621921 pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing The c.123_139dup17 variant in the ARSB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.123_139dup17 variant causes a frameshift starting with codon Leucine 47, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Leu47ProfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.123_139dup17 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.123_139dup17 as a pathogenic variant.

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