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NM_000199.5(SGSH):c.757del (p.Val253fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 3, 2020
Accession:
VCV001069492.1
Variation ID:
1069492
Description:
1bp deletion
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NM_000199.5(SGSH):c.757del (p.Val253fs)

Allele ID
1064473
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80212263 (GRCh38) GRCh38 UCSC
17: 78186062 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.80212264del
NC_000017.10:g.78186063del
NM_000199.5:c.757del MANE Select NP_000190.1:p.Val253fs frameshift
... more HGVS
Protein change
V253fs
Other names
-
Canonical SPDI
NC_000017.11:80212262:CC:C
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 Mar 3, 2020 RCV001381370.1
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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
(Mar 03, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: germline
Invitae
Accession: SCV001579736.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Val253Cysfs*11) in the SGSH gene. It is expected to result in an absent or disrupted protein … (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
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. Pollard LM Journal of inherited metabolic disease 2013 PMID: 22976768
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Héron B American journal of medical genetics. Part A 2011 PMID: 21204211
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. Beesley CE Journal of medical genetics 2000 PMID: 11182930

Record last updated May 13, 2021