U.S. flag

An official website of the United States government

NM_004483.5(GCSH):c.293-2_293-1insT AND Multiple mitochondrial dysfunctions syndrome 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003236610.3

Allele description [Variation Report for NM_004483.5(GCSH):c.293-2_293-1insT]

NM_004483.5(GCSH):c.293-2_293-1insT

Gene:
GCSH:glycine cleavage system protein H [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_004483.5(GCSH):c.293-2_293-1insT
HGVS:
  • NC_000016.10:g.81084595_81084596insA
  • NG_016427.1:g.16780_16781insT
  • NM_004483.5:c.293-2_293-1insTMANE SELECT
  • LRG_541:g.16780_16781insT
  • NC_000016.9:g.81118200_81118201insA
Links:
OMIM: 238330.0003
Molecular consequence:
  • NM_004483.5:c.293-2_293-1insT - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Multiple mitochondrial dysfunctions syndrome 7 (MMDS7)
Identifiers:
MONDO: MONDO:0957382; MedGen: C5830586; OMIM: 620423

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935012OMIM
no assertion criteria provided
Pathogenic
(Sep 5, 2023) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, et al.

Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246.

PubMed [citation]
PMID:
36190515
PMCID:
PMC9990993

Details of each submission

From OMIM, SCV003935012.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.293-2_293-1insT (c.293-2_293-1insT, NM_004483.5) mutation in the GCSH gene, resulting in skipping of exon 4, that was identified in patient 2 with multiple mitochondrial dysfunctions syndrome-7 (MMDS7; 620423) by Arribas-Carreira et al. (2023), see 238330.0002.

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

Last Updated: Dec 2, 2023