NM_000388.4(CASR):c.197G>T (p.Arg66Leu) AND Nephrolithiasis/nephrocalcinosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 18, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004026794.1

Allele description [Variation Report for NM_000388.4(CASR):c.197G>T (p.Arg66Leu)]

NM_000388.4(CASR):c.197G>T (p.Arg66Leu)

Gene:

CASR:calcium sensing receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.197G>T (p.Arg66Leu)

HGVS:

NC_000003.12:g.122257092G>T
NG_009058.1:g.78410G>T
NM_000388.4:c.197G>TMANE SELECT
NM_001178065.2:c.197G>T
NP_000379.3:p.Arg66Leu
NP_001171536.2:p.Arg66Leu
NC_000003.11:g.121975939G>T
NM_000388.2:c.197G>T
NM_000388.3:c.197G>T

Protein change:

R66L

Links:

dbSNP: rs1276839362

NCBI 1000 Genomes Browser:

rs1276839362

Molecular consequence:

NM_000388.4:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.197G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nephrolithiasis/nephrocalcinosis
Identifiers:: MedGen: CN580796

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002723562	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002723562

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 18, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002723562.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R66L variant (also known as c.197G>T), located in coding exon 2 of the CASR gene, results from a G to T substitution at nucleotide position 197. The arginine at codon 66 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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