Submissions for variant NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)

gnomAD frequency: 0.00002  dbSNP: rs766717305

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001311938	SCV001502324	likely pathogenic	not provided	2020-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV001311938	SCV003276987	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 162 of the GALNT3 protein (p.Arg162Gln). This variant is present in population databases (rs766717305, gnomAD 0.009%). This missense change has been observed in individual(s) with tumoral calcinosis (PMID: 20358599). ClinVar contains an entry for this variant (Variation ID: 1013423). 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 expected to disrupt GALNT3 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.