NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) AND Desbuquois dysplasia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000024008.11

Allele description [Variation Report for NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)]

NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)

Gene:

CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)

HGVS:

NC_000017.11:g.78995182A>G
NG_016645.1:g.19636T>C
NM_001159772.2:c.671T>C
NM_001159773.2:c.671T>CMANE SELECT
NM_138793.4:c.671T>C
NP_001153244.1:p.Leu224Pro
NP_001153245.1:p.Leu224Pro
NP_620148.1:p.Leu224Pro
NC_000017.10:g.76991264A>G
Q8WVQ1:p.Leu224Pro

Protein change:

L224P; LEU224PRO

Links:

UniProtKB: Q8WVQ1#VAR_068658; OMIM: 613165.0011; dbSNP: rs150181226

NCBI 1000 Genomes Browser:

rs150181226

Molecular consequence:

NM_001159772.2:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001159773.2:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_138793.4:c.671T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Desbuquois dysplasia 1 (DBQD1)
Synonyms:: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION; DESBUQUOIS DYSPLASIA 1, KIM VARIANT
Identifiers:: MONDO: MONDO:0009629; MedGen: C4012146; Orphanet: 1425; OMIM: 251450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045299	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2011)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 20358610, 21037275

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045299

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2011)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

Baynam G, Kiraly-Borri C, Goldblatt J, Dickinson JE, Jevon GP, Overkov A.

Am J Med Genet A. 2010 Apr;152A(4):966-9. doi: 10.1002/ajmg.a.33264.

PubMed [citation]

PMID:: 20358610

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S.

J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30.

PubMed [citation]

PMID:: 21037275

Details of each submission

From OMIM, SCV000045299.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In an Australian Caucasian 19-week-old fetus with severe prenatal Desbuquois dysplasia-1 (DBQD1; 251450), previously reported by Baynam et al. (2010), Furuichi et al. (2011) identified compound heterozygosity for 2 mutations in the CANT1 gene: a 671T-C transition resulting in a leu224-to-pro (L224P) substitution at a highly conserved residue, and a 1-bp insertion (228insC; 613165.0009). In vitro functional expression studies in COS-7 cells showed reduced levels of the mutant L224P protein, suggesting instability. The mutant L224P protein also showed decreased enzyme activity compared to wildtype, consistent with a loss of function.

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

Last Updated: Nov 10, 2024

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