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NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000041057.3
Variation ID:
41057
Description:
single nucleotide variant
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NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)

Allele ID
49479
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.2
Genomic location
X: 13753412 (GRCh38) GRCh38 UCSC
X: 13771531 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.13753412G>A
NG_008872.1:g.23700G>A
NM_001330209.2:c.980G>A NP_001317138.1:p.Arg327Gln missense
... more HGVS
Protein change
R367Q, R327Q, R227Q
Other names
-
Canonical SPDI
NC_000023.11:13753411:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA343948
dbSNP: rs312262864
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, single submitter May 28, 2019 RCV000033956.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OFD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
466 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Orofaciodigital syndrome I
Allele origin: unknown
Mendelics
Accession: SCV001141471.1
Submitted: (Oct 22, 2019)
Evidence details
pathologic
(Feb 28, 2013)
no assertion criteria provided
Method: curation
Oral-Facial-Digital Syndrome Type I
Allele origin: not provided
GeneReviews
Accession: SCV000057886.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to 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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Title Author Journal Year Link
Oral-Facial-Digital Syndrome Type I Toriello HV - 2016 PMID: 20301367

Text-mined citations for rs312262864...

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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 Nov 27, 2021