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NM_001099922.2(ALG13):c.1922A>G (p.His641Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Nov 28, 2017)
Last evaluated:
May 23, 2017
Accession:
VCV000383125.1
Variation ID:
383125
Description:
single nucleotide variant
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NM_001099922.2(ALG13):c.1922A>G (p.His641Arg)

Allele ID
378845
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq23
Genomic location
X: 111727001 (GRCh38) GRCh38 UCSC
X: 110970229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.111727001A>G
NC_000023.10:g.110970229A>G
NM_001099922.2:c.1922A>G NP_001093392.1:p.His641Arg missense
... more HGVS
Protein change
H641R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00005
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00010
Links
dbSNP: rs766772102
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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 23, 2017 RCV000427327.1
Likely benign 1 criteria provided, single submitter May 10, 2017 RCV000545605.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALG13 - - GRCh38
GRCh37
179 326

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523408.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
A variant of uncertain significance has been identified in the ALG13 gene. The H563R variant has not been published as a pathogenic variant, nor has ... (more)
Likely benign
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 36
Allele origin: germline
Invitae
Accession: SCV000652510.1
Submitted: (Oct 05, 2017)
Evidence details

Citations for this variant

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 Apr 24, 2019