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NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Aug 9, 2019
Accession:
VCV000551933.2
Variation ID:
551933
Description:
3bp insertion
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NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)

Allele ID
548417
Variant type
Insertion
Variant length
3 bp
Cytogenetic location
17q21.2
Genomic location
17: 42536473-42536474 (GRCh38) GRCh38 UCSC
17: 40688491-40688492 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40688492_40688493insCCG
NC_000017.11:g.42536474_42536475insCCG
NM_000263.4:c.202_203insCCG MANE Select NP_000254.2:p.Gly68_Gly69insAla
NG_011552.1:g.5542_5543insCCG
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42536473:G:GCCG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1469781984
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 17, 2017 RCV000667105.1
Uncertain significance 1 criteria provided, single submitter Aug 9, 2019 RCV001240804.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NAGLU - - GRCh38
GRCh37
459 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 17, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: unknown
Counsyl
Accession: SCV000791503.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Aug 09, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001413779.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This variant, c.202_203insCCG, results in the insertion of 1 amino acid(s) to the NAGLU protein (p.Leu67_Gly68insAla), but otherwise preserves the integrity of the reading frame. … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1469781984...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Mar 07, 2021