NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 7, 2012
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:: RCV000032809.4

Allele description [Variation Report for NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)]

NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)

Gene:

CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.2

Genomic location:

Preferred name:

NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)

HGVS:

NC_000007.14:g.16376138A>C
NG_032690.2:g.50185T>G
NM_001101417.4:c.534+29923T>G
NM_001101426.4:c.638T>GMANE SELECT
NM_001368197.1:c.638T>G
NP_001094896.1:p.Met213Arg
NP_001355126.1:p.Met213Arg
A4D126:p.Met213Arg
NC_000007.13:g.16415763A>C
NM_001101426.3:c.638T>G
NR_160656.1:n.854T>G

Protein change:

M213R; MET213ARG

Links:

UniProtKB: A4D126#VAR_069742; OMIM: 614631.0009; dbSNP: rs397515408

NCBI 1000 Genomes Browser:

rs397515408

Molecular consequence:

NM_001101417.4:c.534+29923T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001101426.4:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368197.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_160656.1:n.854T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Synonyms:: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Identifiers:: MONDO: MONDO:0013835; MedGen: C3553330; Orphanet: 899; OMIM: 614643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056577	OMIM	no assertion criteria provided	Pathogenic (Dec 7, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056577

OMIM

no assertion criteria provided

Pathogenic
(Dec 7, 2012)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, et al.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

PubMed [citation]

PMID:: 23217329
PMCID:: PMC3516603

Details of each submission

From OMIM, SCV000056577.3

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

Description

In 3 affected fetuses from a family with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7 (MDDGA7; 614643), Vuillaumier-Barrot et al. (2012) identified a heterozygous 638T-G transversion in exon 3 of the ISPD gene, resulting in a met213-to-arg (M213R) substitution at a highly conserved residue. The mutation was inherited from the unaffected mother. The other allele carried an intragenic deletion encompassing at least exons 3 to 6 (614631.0010) from the unaffected father. The missense mutation, which was not found in several large control databases, was identified by linkage analysis combined with exome sequencing. The exon 3-6 deletion was located in a known CNV; 4 losses were observed in 270 controls, yielding a frequency of 1.5%. The fetuses were ascertained due to severe cobblestone lissencephaly.

#	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: Jan 26, 2024

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