Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 5, 2021)
Last evaluated:
May 8, 2020
Accession:
VCV000866424.4
Variation ID:
866424
Description:
single nucleotide variant
Help

NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

Allele ID
856589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 43192383 (GRCh38) GRCh38 UCSC
8: 43047526 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.43047526C>T
NC_000008.11:g.43192383C>T
NG_009552.1:g.56935C>T
... more HGVS
Protein change
R380C, R444C, R156C
Other names
-
Canonical SPDI
NC_000008.11:43192382:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 16, 2019 RCV001074429.1
Pathogenic 1 criteria provided, single submitter Feb 7, 2020 RCV001251049.1
Uncertain significance 1 criteria provided, single submitter May 8, 2020 RCV001552003.2

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HGSNAT - - GRCh38
GRCh37
529 590

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 16, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240013.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-C
(Autosomal recessive inheritance)
Allele origin: paternal
Undiagnosed Diseases Network,NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV001426451.1
Submitted: (Jun 08, 2020)
Evidence details
Uncertain significance
(May 08, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001772615.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Sep 23, 2021