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NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 26, 2020)
Accession:
VCV000120184.2
Variation ID:
120184
Description:
single nucleotide variant
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NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)

Allele ID
125792
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.3
Genomic location
6: 158150516 (GRCh38) GRCh38 UCSC
6: 158571548 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.158571548G>A
NC_000006.12:g.158150516G>A
NG_032889.1:g.22765C>T
... more HGVS
Protein change
R68*
Other names
-
Canonical SPDI
NC_000006.12:158150515:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA267611
OMIM: 614725.0006
dbSNP: rs529232938
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter - RCV000106307.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SERAC1 - - GRCh38
GRCh37
215 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438949.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(Sep 01, 2013)
no assertion criteria provided
Method: literature only
3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000143766.2
Submitted: (Mar 18, 2014)
Evidence details
Publications
PubMed (1)

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
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Tort F Molecular genetics and metabolism 2013 PMID: 23707711

Text-mined citations for rs529232938...

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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 Oct 08, 2021