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NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 26, 2018)
Last evaluated:
Jun 15, 2018
Accession:
VCV000635057.1
Variation ID:
635057
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)

Allele ID
622883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135431314 (GRCh38) GRCh38 UCSC
6: 135752452 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135752452C>A
NC_000006.12:g.135431314C>A
NG_008643.2:g.71452G>T
... more HGVS
Protein change
G756V
Other names
-
Canonical SPDI
NC_000006.12:135431313:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs372012542
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 15, 2018 RCV000785932.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AHI1 - - GRCh38
GRCh37
632 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 15, 2018)
criteria provided, single submitter
Method: research
Joubert syndrome 3
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV000924512.1
Submitted: (Sep 26, 2018)
Evidence details
Comment:
The homozygous p.Gly756Val variant was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. The Glycine … (more)

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 rs372012542...

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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 24, 2021