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NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 29, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000002042.3
Variation ID:
2042
Description:
single nucleotide variant
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NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

Allele ID
17081
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q11.2
Genomic location
3: 97768199 (GRCh38) GRCh38 UCSC
3: 97487043 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9H0F7:p.Thr31Met
NC_000003.11:g.97487043C>T
NC_000003.12:g.97768199C>T
... more HGVS
Protein change
T31M
Other names
-
Canonical SPDI
NC_000003.12:97768198:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA252069
UniProtKB: Q9H0F7#VAR_027643
OMIM: 608845.0003
dbSNP: rs104893680
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 Apr 1, 2021 RCV001723532.1
Pathogenic 1 no assertion criteria provided Sep 1, 2004 RCV000002123.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARL6 - - GRCh38
GRCh37
88 109

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 01, 2021)
criteria provided, single submitter
Method: curation
Retinitis pigmentosa
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001950208.1
Submitted: (Sep 29, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The p.Thr31Met variant in ARL6 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics … (more)
Pathogenic
(Sep 01, 2004)
no assertion criteria provided
Method: literature only
BARDET-BIEDL SYNDROME 3
Allele origin: germline
OMIM
Accession: SCV000022281.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Zaghloul NA Proceedings of the National Academy of Sciences of the United States of America 2010 PMID: 20498079
Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome. Kobayashi T Biochemical and biophysical research communications 2009 PMID: 19236846
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Fan Y Nature genetics 2004 PMID: 15314642

Text-mined citations for rs104893680...

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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