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NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 14, 2015)
Last evaluated:
Nov 20, 2012
Accession:
VCV000216888.1
Variation ID:
216888
Description:
single nucleotide variant
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NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)

Allele ID
213604
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q24.1
Genomic location
10: 95606856 (GRCh38) GRCh38 UCSC
10: 97366613 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.97366613C>T
NC_000010.11:g.95606856C>T
NM_001017423.2:c.2288G>A NP_001017423.1:p.Arg763Gln missense
... more HGVS
Protein change
R765Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00004
1000 Genomes Project 0.00020
Links
dbSNP: rs537043237
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 20, 2012 RCV000196978.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH18A1 - - GRCh38
GRCh37
174 191

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 20, 2012)
criteria provided, single submitter
Method: clinical testing
Cutis laxa-corneal clouding-oligophrenia syndrome
(Autosomal recessive inheritance)
Allele origin: germline
UCLA Clinical Genomics Center, UCLA
Study: CES
Accession: SCV000255322.2
Submitted: (May 14, 2015)
Evidence details

Citations for this variant

Title Author Journal Year Link
Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H JAMA 2014 PMID: 25326637

Record last updated Aug 25, 2019