ClinVar Miner

Submissions for variant NC_000016.9:g.(?_88884395)_(88884552_?)del

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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 RCV001379364 SCV001577153 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2020-09-24 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Met494 amino acid residue in GALNS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23876334, 9298823, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with GALNS-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 13 of the GALNS gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product.

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