NM_000178.4(GSS):c.1103_1104del (p.Glu368fs) AND Inherited glutathione synthetase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 31, 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:: RCV003510854.1

Allele description

NM_000178.4(GSS):c.1103_1104del (p.Glu368fs)

Gene:

GSS:glutathione synthetase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

20q11.22

Genomic location:

Preferred name:

NM_000178.4(GSS):c.1103_1104del (p.Glu368fs)

HGVS:

NC_000020.11:g.34931343CT[3]
NG_008848.2:g.29678AG[3]
NM_000178.4:c.1103_1104delMANE SELECT
NM_001322494.1:c.1103_1104del
NM_001322495.1:c.1103_1104del
NP_000169.1:p.Glu368fs
NP_001309423.1:p.Glu368fs
NP_001309424.1:p.Glu368fs
LRG_1168t1:c.1103_1104del
LRG_1168:g.29678AG[3]
LRG_1168p1:p.Glu368fs
NC_000020.10:g.33519146CT[3]
NC_000020.10:g.33519146_33519147del

Protein change:

E368fs

Molecular consequence:

NM_000178.4:c.1103_1104del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322494.1:c.1103_1104del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001322495.1:c.1103_1104del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inherited glutathione synthetase deficiency
Identifiers:: MONDO: MONDO:0017909; MedGen: CN030166; Orphanet: 32

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004269284	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 31, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12638941, 15717202, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004269284

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 31, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?

Ristoff E, Hebert C, Njålsson R, Norgren S, Rooyackers O, Larsson A.

J Inherit Metab Dis. 2002 Nov;25(7):577-84.

PubMed [citation]

PMID:: 12638941

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.

Njålsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S.

Hum Genet. 2005 Apr;116(5):384-9. Epub 2005 Feb 17.

PubMed [citation]

PMID:: 15717202

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004269284.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu368Glyfs*4) in the GSS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GSS are known to be pathogenic (PMID: 12638941, 15717202). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GSS-related conditions. For these reasons, this variant has been classified as 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: Apr 6, 2024

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