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NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000497427.3
Variation ID:
497427
Description:
single nucleotide variant
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NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg)

Allele ID
488851
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216415210 (GRCh38) GRCh38 UCSC
2: 217279933 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_108:g.7797A>G
LRG_108t1:c.506A>G LRG_108p1:p.Lys169Arg
NC_000002.11:g.217279933A>G
... more HGVS
Protein change
K169R
Other names
-
Canonical SPDI
NC_000002.12:216415209:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA2097601
dbSNP: rs777999697
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 Oct 6, 2016 RCV000592279.1
Uncertain significance 1 criteria provided, single submitter Oct 19, 2020 RCV001241951.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCAL1 - - GRCh38
GRCh37
465 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 06, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701922.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Invitae
Accession: SCV001415007.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 169 of the SMARCAL1 protein (p.Lys169Arg). The lysine residue is weakly conserved and there is a … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SMARCAL1 - - - -

Text-mined citations for rs777999697...

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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