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NM_000388.4(CASR):c.679C>T (p.Arg227Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 26, 2020)
Last evaluated:
Dec 11, 2018
Accession:
VCV000532618.5
Variation ID:
532618
Description:
single nucleotide variant
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NM_000388.4(CASR):c.679C>T (p.Arg227Ter)

Allele ID
518951
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 121980561 (GRCh37) GRCh37 UCSC
3: 122261714 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.121980561C>T
NC_000003.12:g.122261714C>T
NM_000388.4:c.679C>T MANE Select NP_000379.3:p.Arg227Ter nonsense
... more HGVS
Protein change
R227*
Other names
-
Canonical SPDI
NC_000003.12:122261713:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA354151112
dbSNP: rs1085307984
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Dec 11, 2018 RCV000657571.3
Pathogenic 1 criteria provided, single submitter Nov 1, 2018 RCV000639467.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CASR No evidence available No evidence available GRCh38
GRCh37
1275 1293

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779308.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R227X nonsense variant in the CASR gene has been reported previously in association with familial hypocalciuric hypercalcemia, as well as with neonatal severe primary … (more)
Pathogenic
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypocalciuric hypercalcemia
Hypocalcemia, autosomal dominant 1
Allele origin: germline
Invitae
Accession: SCV000761042.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg227*) in the CASR gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Oct 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143444.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and … (more)
Likely pathogenic
(Dec 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital
Accession: SCV001449731.1
Submitted: (Nov 26, 2020)
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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Title Author Journal Year Link
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. Glaudo M European journal of endocrinology 2016 PMID: 27666534
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. Vargas-Poussou R The Journal of clinical endocrinology and metabolism 2016 PMID: 26963950
Neonatal severe hyperparathyroidism: further clinical and molecular delineation. Al-Khalaf FA European journal of pediatrics 2011 PMID: 20972686

Text-mined citations for rs1085307984...

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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 Apr 08, 2021