NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) AND Creatine transporter deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000694042.4

Allele description [Variation Report for NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)]

NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)

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.92C>T (p.Pro31Leu)
HGVS:
  • NC_000023.11:g.153688666C>T
  • NG_012016.1:g.5370C>T
  • NG_012016.2:g.5370C>T
  • NM_001142805.2:c.92C>T
  • NM_005629.4:c.92C>TMANE SELECT
  • NP_001136277.1:p.Pro31Leu
  • NP_005620.1:p.Pro31Leu
  • NC_000023.10:g.152954121C>T
  • NM_005629.3:c.92C>T
Protein change:
P31L
Links:
dbSNP: rs868950793
NCBI 1000 Genomes Browser:
rs868950793
Molecular consequence:
  • NM_001142805.2:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005629.4:c.92C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000822468Invitaecriteria provided, single submitter
Benign
(Dec 3, 2020)
germlineclinical testing

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

SCV000891652Department of Genetics,Sultan Qaboos University Hospital, Omancriteria provided, single submitter
Uncertain significance
(Dec 30, 2017)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Invitae, SCV000822468.3

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

From Department of Genetics,Sultan Qaboos University Hospital, Oman, SCV000891652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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