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NM_000388.4(CASR):c.2303G>T (p.Gly768Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Oct 29, 2019
Accession:
VCV000633483.2
Variation ID:
633483
Description:
single nucleotide variant
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NM_000388.4(CASR):c.2303G>T (p.Gly768Val)

Allele ID
621905
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 122284257 (GRCh38) GRCh38 UCSC
3: 122003104 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.122003104G>T
NC_000003.12:g.122284257G>T
NG_009058.1:g.105575G>T
... more HGVS
Protein change
G768V, G778V
Other names
-
Canonical SPDI
NC_000003.12:122284256:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
dbSNP: rs201858689
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 Oct 29, 2019 RCV001238616.1
Pathogenic 1 no assertion criteria provided Feb 1, 2007 RCV000781967.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CASR No evidence available No evidence available GRCh38
GRCh37
1279 1297

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 29, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypocalciuric hypercalcemia
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV001411439.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with valine at codon 768 of the CASR protein (p.Gly768Val). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 01, 2007)
no assertion criteria provided
Method: clinical testing
Neonatal severe hyperparathyroidism
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000920421.1
Submitted: (Feb 28, 2019)
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
A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. Diaz-Thomas A Journal of pediatric endocrinology & metabolism : JPEM 2014 PMID: 24854525
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hannan FM Human molecular genetics 2012 PMID: 22422767

Text-mined citations for rs201858689...

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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