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NM_000178.4(GSS):c.1192dup (p.Met398fs) AND Inherited glutathione synthetase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 31, 2023
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:
RCV003123374.3

Allele description [Variation Report for NM_000178.4(GSS):c.1192dup (p.Met398fs)]

NM_000178.4(GSS):c.1192dup (p.Met398fs)

Gene:
GSS:glutathione synthetase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
20q11.22
Genomic location:
Preferred name:
NM_000178.4(GSS):c.1192dup (p.Met398fs)
HGVS:
  • NC_000020.11:g.34929510dup
  • NG_008848.2:g.31518dup
  • NG_011520.1:g.59569dup
  • NM_000178.4:c.1192dupMANE SELECT
  • NM_001322494.1:c.1192dup
  • NM_001322495.1:c.1192dup
  • NP_000169.1:p.Met398fs
  • NP_001309423.1:p.Met398fs
  • NP_001309424.1:p.Met398fs
  • LRG_1168t1:c.1192dup
  • LRG_1168:g.31518dup
  • LRG_1168p1:p.Met398fs
  • NC_000020.10:g.33517313dup
  • NM_000178.3:c.1192dupA
Protein change:
M398fs
Molecular consequence:
  • NM_000178.4:c.1192dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322494.1:c.1192dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001322495.1:c.1192dup - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003800673Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Jan 31, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003800673.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: GSS c.1192dupA (p.Met398AsnfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncation downstream of this position have been reported in an individual affected with 5-oxoprolinuria (PMID 25851806). The variant was absent in 251408 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1192dupA in individuals affected with Glutathione Synthetase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024