U.S. flag

An official website of the United States government

NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV001003995.9

Allele description [Variation Report for NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)]

NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
HGVS:
  • NC_000017.11:g.80212128A>G
  • NG_008229.1:g.13273T>C
  • NM_000199.5:c.892T>CMANE SELECT
  • NM_001352921.3:c.892T>C
  • NM_001352922.2:c.892T>C
  • NP_000190.1:p.Ser298Pro
  • NP_000190.1:p.Ser298Pro
  • NP_001339850.1:p.Ser298Pro
  • NP_001339851.1:p.Ser298Pro
  • NC_000017.10:g.78185927A>G
  • NM_000199.3:c.892T>C
  • NM_000199.4:c.892T>C
  • NR_148201.2:n.806T>C
  • P51688:p.Ser298Pro
  • p.S298P
Protein change:
S298P; SER298PRO
Links:
UniProtKB: P51688#VAR_007412; OMIM: 605270.0013; dbSNP: rs138504221
NCBI 1000 Genomes Browser:
rs138504221
Molecular consequence:
  • NM_000199.5:c.892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352921.3:c.892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352922.2:c.892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148201.2:n.806T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Diarrhea
Identifiers:
MedGen: C0011991; Human Phenotype Ontology: HP:0002014
Name:
Nystagmus
Identifiers:
MONDO: MONDO:0004843; MedGen: C0028738; Human Phenotype Ontology: HP:0000639
Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Name:
Severely reduced visual acuity
Synonyms:
Severe visual impairment
Identifiers:
MedGen: C1301509; Human Phenotype Ontology: HP:0001141
Name:
Developmental regression
Synonyms:
C1836830
Identifiers:
MedGen: C1836830; Human Phenotype Ontology: HP:0002376
Name:
Gastrointestinal dysmotility
Identifiers:
MedGen: C1836923; Human Phenotype Ontology: HP:0002579

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
SCV001162039NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024