ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1515del (p.Lys506fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003599485 SCV004430987 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-02-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GALNS protein in which other variant(s) (p.Trp520Arg) have been determined to be pathogenic (PMID: 34472180). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with GALNS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys506Serfs*3) in the GALNS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the GALNS protein.

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