ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1087dup (p.Leu363fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064269 SCV001229158 pathogenic Metachromatic leukodystrophy 2019-02-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ARSA gene (p.Leu363Profs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acids of the ARSA protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ARSA-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the ARSA protein. Another variant that disrupts this region (p.Pro349Hisfs*74) has been determined to be pathogenic (PMID:26462614, 7906588, 19021637, 10220151). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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