NM_001195553.2(DCX):c.572C>G (p.Pro191Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 30, 2017
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:: RCV000498232.2

Allele description [Variation Report for NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)]

NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

Preferred name:

NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)

HGVS:

NC_000023.11:g.111401123G>C
NG_011750.1:g.16056C>G
NM_000555.3:c.815C>G
NM_001195553.2:c.572C>GMANE SELECT
NM_001369370.1:c.572C>G
NM_001369371.1:c.572C>G
NM_001369372.1:c.572C>G
NM_001369373.1:c.572C>G
NM_001369374.1:c.572C>G
NM_178151.3:c.572C>G
NM_178152.3:c.572C>G
NM_178153.3:c.572C>G
NP_000546.2:p.Pro272Arg
NP_001182482.1:p.Pro191Arg
NP_001356299.1:p.Pro191Arg
NP_001356300.1:p.Pro191Arg
NP_001356301.1:p.Pro191Arg
NP_001356302.1:p.Pro191Arg
NP_001356303.1:p.Pro191Arg
NP_835364.1:p.Pro191Arg
NP_835364.1:p.Pro191Arg
NP_835365.1:p.Pro191Arg
NP_835366.1:p.Pro191Arg
NC_000023.10:g.110644351G>C
NM_178151.2:c.572C>G
NM_178153.1:c.572C>G
O43602:p.Pro191Arg

Protein change:

P191R

Links:

UniProtKB: O43602#VAR_007832; dbSNP: rs587783566

NCBI 1000 Genomes Browser:

rs587783566

Molecular consequence:

NM_000555.3:c.815C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195553.2:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369370.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369371.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369372.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369373.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369374.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_178151.3:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_178152.3:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_178153.3:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Mus musculus nucleolar protein family A, member 3 (Nola3), mRNA
Mus musculus nucleolar protein family A, member 3 (Nola3), mRNA
gi|142373287|ref|NM_025403.2|

Nucleotide
Grallaria squamigera NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitoc...
Grallaria squamigera NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrial
gi|7715729|gb|AF127203.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589547	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589547

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 30, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000589547.3

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

Description

The P191R variant in the DCX gene has been reported previously in an individual with subcortical band heterotopia (Gleeson et al., 1999). Functional studies indicate that this variant impacts the function of the DCX protein (Bechstedt et al., 2012, Bechstedt et al., 2014). The P191R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P191R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variants at the same position (P191L) and in multiple nearby residues have been reported in the Human Gene Mutation Database in association with DCX-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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

Last Updated: Aug 13, 2023

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