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NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 11, 2014)
Last evaluated:
Jun 20, 2013
Accession:
VCV000159469.2
Variation ID:
159469
Description:
single nucleotide variant
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NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)

Allele ID
169943
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.2
Genomic location
X: 13736597 (GRCh38) GRCh38 UCSC
X: 13754716 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.13754716A>C
NC_000023.11:g.13736597A>C
NG_008872.1:g.6885A>C
... more HGVS
Protein change
L77F
Other names
-
Canonical SPDI
NC_000023.11:13736596:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA272353
dbSNP: rs587784232
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 Jun 20, 2013 RCV000146982.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jun 20, 2013)
criteria provided, single submitter
Method: clinical testing
Oral-facial-digital syndrome 1
(X-linked inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000194318.1
Submitted: (Sep 11, 2014)
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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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 rs587784232...

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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