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NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Oct 4, 2021)
Last evaluated:
Aug 1, 2020
Accession:
VCV000402256.3
Variation ID:
402256
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)

Allele ID
389223
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90728933 (GRCh38) GRCh38 UCSC
5: 90024750 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1095:g.204590G>A
NC_000005.10:g.90728933G>A
NC_000005.9:g.90024750G>A
... more HGVS
Protein change
G3476R
Other names
NM_032119.3:c.10426G>A, p.(Gly3476Arg)
Canonical SPDI
NC_000005.10:90728932:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609561
dbSNP: rs1060499795
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Aug 1, 2020 RCV000454263.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADGRV1 - - GRCh38
GRCh37
2423 2454

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: maternal
Baylor Genetics
Accession: SCV001527130.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(Aug 01, 2020)
criteria provided, single submitter
Method: research
Usher syndrome, type 2C
Allele origin: germline
King Laboratory,University of Washington
Accession: SCV001976379.1
Submitted: (Oct 04, 2021)
Evidence details
Comment:
Analysis of patient-derived RNA indicates that ADGRV1 c.10426+1G>A disrupts the donor splice site of ADGRV1 exon 49, leading to transcriptional loss of 209bp and a … (more)
Pathogenic
(Jun 04, 2016)
no assertion criteria provided
Method: research
Usher syndrome, type 2C
Allele origin: germline
Hereditary Research Laboratory, Bethlehem University
Accession: SCV000538092.1
Submitted: (Jul 28, 2016)
Evidence details
Comment:
congenital, moderate to severe

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 rs1060499795...

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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