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NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Oct 14, 2019
Accession:
VCV000296904.3
Variation ID:
296904
Description:
single nucleotide variant
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NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)

Allele ID
280538
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 243270994 (GRCh38) GRCh38 UCSC
1: 243434296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.243434296T>A
NC_000001.11:g.243270994T>A
NG_027811.1:g.19990T>A
... more HGVS
Protein change
D79E
Other names
-
Canonical SPDI
NC_000001.11:243270993:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00033
The Genome Aggregation Database (gnomAD) 0.00041
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00046
Links
ClinGen: CA1483244
dbSNP: rs146474568
VarSome
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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 Jan 12, 2018 RCV000310366.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000365007.2
Uncertain significance 1 criteria provided, single submitter Oct 14, 2019 RCV000532918.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDCCAG8 - - GRCh38
GRCh38
GRCh37
226 346

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Senior-Loken syndrome 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356797.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356798.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 14, 2019)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Allele origin: germline
Invitae
Accession: SCV000655039.3
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 79 of the SDCCAG8 protein (p.Asp79Glu). The aspartic acid residue is weakly conserved and … (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
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Halbritter J Journal of medical genetics 2012 PMID: 23188109

Text-mined citations for rs146474568...

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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 24, 2021