NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2018
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:: RCV001073883.1

Allele description [Variation Report for NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly)]

NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly)

Gene:

NYX:nyctalopin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly)

HGVS:

NC_000023.11:g.41474177_41474178delinsGG
NG_009112.1:g.31718_31719delinsGG
NM_001378477.3:c.709_710delinsGGMANE SELECT
NM_022567.3:c.709_710delinsGG
NP_001365406.2:p.Leu237Gly
NP_072089.1:p.Leu242Gly
NP_072089.2:p.Leu237Gly
NC_000023.10:g.41333430_41333431delinsGG
NM_022567.2:c.724_725delinsGG

Protein change:

L237G

Links:

dbSNP: rs2064377494

NCBI 1000 Genomes Browser:

rs2064377494

Molecular consequence:

NM_001378477.3:c.709_710delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_022567.3:c.709_710delinsGG - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239447	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Apr 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239447

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Apr 21, 2018)

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 Blueprint Genetics, SCV001239447.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 1, 2023

ClinVar

Relating variation to medicine