Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003444401 | SCV004171297 | likely pathogenic | Mucopolysaccharidosis, MPS-IV-A | criteria provided, single submitter | clinical testing | The frameshift c.1374dup(p.Ala459ArgfsTer44) variant in GALNS gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ala459ArgfsTer44 variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Alanine 459, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 44 of the new reading frame, denoted p.Ala459ArgfsTer44. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |