Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 21, 2021)
Last evaluated:
May 5, 2020
Accession:
VCV000215139.3
Variation ID:
215139
Description:
single nucleotide variant
Help

NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)

Allele ID
211217
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.3
Genomic location
6: 158158343 (GRCh38) GRCh38 UCSC
6: 158579375 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.158579375G>C
NC_000006.12:g.158158343G>C
NG_032889.1:g.14938C>G
... more HGVS
Protein change
C7W
Other names
p.C7W:TGC>TGG
Canonical SPDI
NC_000006.12:158158342:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00036
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Links
ClinGen: CA325378
dbSNP: rs139301835
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts May 5, 2020 RCV000987811.2
Likely pathogenic 1 criteria provided, single submitter May 2, 2014 RCV000200793.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 02, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000252247.8
Submitted: (Dec 21, 2016)
Evidence details
Comment:
p.Cys7Trp (TGC>TGG): c.21 C>G in exon 2 of the SERAC1 gene (NM_032861.3) A C7W variant that is likely pathogenic was identified in the SERAC1 gene. … (more)
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Allele origin: unknown
Mendelics
Accession: SCV001137267.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(May 05, 2020)
criteria provided, single submitter
Method: clinical testing
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Allele origin: unknown
Baylor Genetics
Accession: SCV001525114.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

Help
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

Help
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 rs139301835...

Help
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