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NM_014140.4(SMARCAL1):c.2765T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 28, 2020)
Last evaluated:
Nov 19, 2019
Accession:
VCV000282214.3
Variation ID:
282214
Description:
single nucleotide variant
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NM_014140.4(SMARCAL1):c.2765T>C

Allele ID
266451
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216482877 (GRCh38) GRCh38 UCSC
2: 217347600 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.217347600T>C
NC_000002.12:g.216482877T>C
NM_014140.4:c.2765T>C MANE Select
... more HGVS
Protein change
M922T
Other names
-
Canonical SPDI
NC_000002.12:216482876:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00025
The Genome Aggregation Database (gnomAD) 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00011
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA2098300
dbSNP: rs200431186
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 Aug 11, 2015 RCV000319671.1
Uncertain significance 2 criteria provided, single submitter Nov 19, 2019 RCV001242768.2
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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
(Aug 11, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333556.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Nov 19, 2019)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Invitae
Accession: SCV001415876.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 922 of the SMARCAL1 protein (p.Met922Thr). The methionine residue is weakly conserved and there is a … (more)
Likely benign
(Aug 14, 2020)
no assertion criteria provided
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Natera, Inc.
Accession: SCV001464297.1
Submitted: (Dec 28, 2020)
Evidence details

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 rs200431186...

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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 Aug 27, 2021