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NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 13, 2020
Accession:
VCV001073350.1
Variation ID:
1073350
Description:
2bp duplication
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NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)

Allele ID
1064472
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
17q25.3
Genomic location
17: 80210718-80210719 (GRCh38) GRCh38 UCSC
17: 78184517-78184518 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78184519_78184520dup
NC_000017.11:g.80210720_80210721dup
NM_000199.5:c.1241_1242dup MANE Select NP_000190.1:p.Thr415fs frameshift
... more HGVS
Protein change
T415fs
Other names
-
Canonical SPDI
NC_000017.11:80210718:GCG:GCGCG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 13, 2020 RCV001386333.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGSH - - GRCh38
GRCh37
410 636

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 13, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001586523.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change results in a frameshift in the SGSH gene (p.Thr415Alafs*177). While this is not anticipated to result in nonsense mediated decay, it is … (more)

Functional evidence

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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

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Title Author Journal Year Link
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. Truxal KV Molecular genetics and metabolism 2016 PMID: 27590925
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Scott HS Nature genetics 1995 PMID: 7493035

Record last updated May 13, 2021