NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) AND Bietti crystalline corneoretinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 4, 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:: RCV000032543.4

Allele description [Variation Report for NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)]

NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)

Gene:

CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.1

Genomic location:

Preferred name:

NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)

HGVS:

NC_000004.12:g.186197044T>G
NG_007965.1:g.10525T>G
NM_207352.4:c.518T>GMANE SELECT
NP_997235.3:p.Leu173Trp
NC_000004.11:g.187118198T>G
NM_207352.3:c.518T>G

Nucleotide change:

c.823T>G

Protein change:

L173W

Links:

dbSNP: rs199476190

NCBI 1000 Genomes Browser:

rs199476190

Molecular consequence:

NM_207352.4:c.518T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bietti crystalline corneoretinal dystrophy (BCD)
Synonyms:: Bietti tapetoretinal degeneration with marginal corneal dystrophy; Bietti Crystalline Dystrophy
Identifiers:: MONDO: MONDO:0008865; MedGen: C1859486; OMIM: 210370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056210	GeneReviews	no assertion criteria provided	pathologic (Apr 12, 2012)	not provided	curation
SCV002519474	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056210

GeneReviews

no assertion criteria provided

pathologic
(Apr 12, 2012)

not provided

curation

SCV002519474

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 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
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000056210.2

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

Description

Converted during submission to Pathogenic.

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

From Mendelics, SCV002519474.1

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

#	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: Jun 23, 2024

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