Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001922751 | SCV002172161 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 363 of the GALNS protein (p.Ile363Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs758802414, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with GALNS-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GALNS protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV004616848 | SCV005119822 | uncertain significance | Inborn genetic diseases | 2024-06-22 | criteria provided, single submitter | clinical testing | The c.1087A>G (p.I363V) alteration is located in exon 10 (coding exon 10) of the GALNS gene. This alteration results from a A to G substitution at nucleotide position 1087, causing the isoleucine (I) at amino acid position 363 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |