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NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter) AND Creatine transporter deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 28, 2021
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:
RCV001754572.2

Allele description [Variation Report for NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)]

NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)

Gene:
SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)
HGVS:
  • NC_000023.11:g.153694205G>T
  • NG_012016.2:g.10909G>T
  • NM_001142805.2:c.1300G>T
  • NM_001142806.1:c.985G>T
  • NM_005629.4:c.1330G>TMANE SELECT
  • NP_001136277.1:p.Glu434Ter
  • NP_001136278.1:p.Glu329Ter
  • NP_005620.1:p.Glu444Ter
  • NC_000023.10:g.152959660G>T
  • NM_005629.3:c.1330G>T
Protein change:
E329*
Links:
dbSNP: rs2091474617
NCBI 1000 Genomes Browser:
rs2091474617
Molecular consequence:
  • NM_001142805.2:c.1300G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142806.1:c.985G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005629.4:c.1330G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Creatine transporter deficiency (CCDS1)
Synonyms:
Creatine deficiency, X-linked; Mental retardation , X-linked with seizures, short stature and midface hypoplasia; Mental retardation , X-linked, with creatine transport deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010305; MedGen: C1845862; Orphanet: 52503; OMIM: 300352

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001994817Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 28, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001994817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024