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NM_000642.3(AGL):c.4221del (p.Lys1407fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 1, 2019
Accession:
VCV000633033.4
Variation ID:
633033
Description:
1bp deletion
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NM_000642.3(AGL):c.4221del (p.Lys1407fs)

Allele ID
621093
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99915441 (GRCh38) GRCh38 UCSC
1: 100380997 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000642.2:c.4221del
NC_000001.10:g.100381004del
NC_000001.11:g.99915448del
... more HGVS
Protein change
K1391fs, K1407fs
Other names
-
Canonical SPDI
NC_000001.11:99915440:AAAAAAAA:AAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs786204655
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 1, 2019 RCV000780821.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1284 1299

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 20, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918400.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: The AGL c.4221delA (p.Lys1407AsnfsX8) variant results in a premature termination codon, predicted to cause a truncated or absent AGL protein due to nonsense … (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Mendelics
Accession: SCV001135380.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Jul 01, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type III
Allele origin: germline
Invitae
Accession: SCV001396803.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Lys1407Asnfs*8) in the AGL 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
Glycogen storage disease type III in the Irish population. Crushell E Journal of inherited metabolic disease 2010 PMID: 20490926
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. Cheng A Human molecular genetics 2009 PMID: 19299494
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. Paesold-Burda P Journal of inherited metabolic disease 2007 PMID: 17994282

Text-mined citations for rs786204655...

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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 Nov 27, 2021