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NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) AND not provided

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Dec 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000078354.41

Allele description [Variation Report for NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)]

NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)

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.220C>T (p.Arg74Cys)
HGVS:
  • NC_000017.11:g.80217061G>A
  • NG_008229.1:g.8340C>T
  • NM_000199.5:c.220C>TMANE SELECT
  • NM_001352921.3:c.220C>T
  • NM_001352922.2:c.220C>T
  • NP_000190.1:p.Arg74Cys
  • NP_000190.1:p.Arg74Cys
  • NP_001339850.1:p.Arg74Cys
  • NP_001339851.1:p.Arg74Cys
  • NC_000017.10:g.78190860G>A
  • NM_000199.3:c.220C>T
  • NM_000199.4:c.220C>T
  • NR_148201.2:n.240C>T
  • P51688:p.Arg74Cys
Protein change:
R74C; ARG74CYS
Links:
UniProtKB: P51688#VAR_007391; OMIM: 605270.0002; dbSNP: rs104894636
NCBI 1000 Genomes Browser:
rs104894636
Molecular consequence:
  • NM_000199.5:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352921.3:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352922.2:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148201.2:n.240C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
17

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000227052Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Sep 2, 2016) 		germlineclinical testing

Citation Link,

SCV000321945GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 7, 2022) 		germlineclinical testing

Citation Link,

SCV001247663CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Dec 1, 2023) 		germlineclinical testing

Citation Link,

SCV002037524Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes9not providednot providednot providednot providedclinical testing
not providedgermlineunknown8not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000227052.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

From GeneDx, SCV000321945.8

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

Description

Published functional studies demonstrate very low sulfamidase production compared to wild-type (Perkins et al., 1999).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18407553, 24816101, 11668611, 21061399, 31236806, 28963436, 30809705, 30548430, 10601282, 18392742, 15146460, 11793481, 22976768, 26787381, 21671382, 29023963, 28844463, 9285796, 31718697, 31980526, 32036093, 34349725, 34426522, 31589614, 33726816)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001247663.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testingnot provided

Description

SGSH: PM3:Very Strong, PM2, PM5, PP3, PS3:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided9not providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV002037524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024