NM_000512.5(GALNS):c.950G>A (p.Gly317Glu) AND Morquio syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 23, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004800986.1

Allele description [Variation Report for NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)]

NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)

Gene:

GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)

HGVS:

NC_000016.10:g.88832050C>T
NG_008667.1:g.29917G>A
NM_000512.5:c.950G>AMANE SELECT
NM_001323543.2:c.395G>A
NM_001323544.2:c.968G>A
NP_000503.1:p.Gly317Glu
NP_001310472.1:p.Gly132Glu
NP_001310473.1:p.Gly323Glu
NC_000016.9:g.88898458C>T

Protein change:

G132E

Links:

dbSNP: rs2142999169

Molecular consequence:

NM_000512.5:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323543.2:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001323544.2:c.968G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Morquio syndrome
Synonyms:: Mucopolysaccharidosis, Type IV; MPS IV; Mucopolysaccharidosis type 4; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018938; MedGen: C0026707; Orphanet: 582

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005422187	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Oct 23, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25545067, 31200731 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005422187

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Oct 23, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, et al.

Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.

PubMed [citation]

PMID:: 25545067

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.

Leong HY, Abdul Azize NA, Chew HB, Keng WT, Thong MK, Mohd Khalid MKN, Hung LC, Mohamed Zainudin N, Ramlee A, Md Haniffa MA, Yakob Y, Ngu LH.

Orphanet J Rare Dis. 2019 Jun 14;14(1):143. doi: 10.1186/s13023-019-1105-6.

PubMed [citation]

PMID:: 31200731
PMCID:: PMC6570902

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005422187.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: GALNS c.950G>A (p.Gly317Glu) results in a non-conservative amino acid change located in the Sulfatase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250648 control chromosomes. c.950G>A has been reported in the literature in individuals affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A) (examples: Caciotti_2015 and Leong_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Different variant affecting this residue has been classified Pathogenic in ClinVar (c.949G>C (p.Gly317Arg) Variation ID: 1048310). ClinVar contains an entry for this variant (Variation ID: 1048311). Based on the evidence outlined above, the variant was classified as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 16, 2026

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