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NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 21, 2021)
Last evaluated:
May 3, 2019
Accession:
VCV000873717.2
Variation ID:
873717
Description:
single nucleotide variant
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NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)

Allele ID
864184
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 243378841 (GRCh38) GRCh38 UCSC
1: 243542143 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.243542143G>A
NC_000001.11:g.243378841G>A
NG_027811.1:g.127837G>A
... more HGVS
Protein change
E434K, E532K, E231K, E564K
Other names
-
Canonical SPDI
NC_000001.11:243378840:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 3, 2019 RCV001096096.2
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001101541.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001252285.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Senior-Loken syndrome 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001258157.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(May 03, 2019)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Allele origin: unknown
Baylor Genetics
Accession: SCV001523677.1
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

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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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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 Oct 08, 2021