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NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 24, 2020)
Last evaluated:
Jan 1, 2016
Accession:
VCV000374208.3
Variation ID:
374208
Description:
single nucleotide variant
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NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)

Allele ID
360834
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216415427 (GRCh38) GRCh38 UCSC
2: 217280150 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.217280150C>A
NC_000002.12:g.216415427C>A
NG_009771.1:g.8014C>A
... more HGVS
Protein change
C241*
Other names
-
Canonical SPDI
NC_000002.12:216415426:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16043385
dbSNP: rs748106387
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 4, 2014 RCV000414912.1
Pathogenic 1 criteria provided, single submitter Jan 1, 2016 RCV001196355.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Mar 04, 2014)
criteria provided, single submitter
Method: clinical testing
Atrioventricular septal defect
Congenital microcephaly
Decreased body weight
Disproportionate short-trunk short stature
Focal segmental glomerulosclerosis
Microcephaly
Short stature
Small for gestational age
Steroid-resistant nephrotic syndrome
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000493053.1
Submitted: (Nov 12, 2016)
Evidence details
Pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366956.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Pathogenic.

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.

Text-mined citations for rs748106387...

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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