Submissions for variant NM_000512.5(GALNS):c.1459A>T (p.Asn487Tyr)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586332	SCV005077279	uncertain significance	not specified	2024-04-18	criteria provided, single submitter	clinical testing	Variant summary: GALNS c.1459A>T (p.Asn487Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 202644 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1459A>T has been reported in the literature in an individual affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A) (example: YI_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 35212421). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics	RCV005015200	SCV005641455	likely pathogenic	Mucopolysaccharidosis, MPS-IV-A	2024-04-18	criteria provided, single submitter	clinical testing