NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 2023
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:: RCV003324288.2

Allele description [Variation Report for NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)]

NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)

HGVS:

NC_000001.11:g.197421713A>G
NG_008483.2:g.225252A>G
NG_008483.3:g.225211A>G
NM_001193640.2:c.1549A>G
NM_001257965.2:c.1678A>G
NM_001257966.2:c.1885A>G
NM_201253.3:c.1885A>GMANE SELECT
NP_001180569.1:p.Asn517Asp
NP_001244894.1:p.Asn560Asp
NP_001244895.1:p.Asn629Asp
NP_957705.1:p.Asn629Asp
NC_000001.10:g.197390843A>G
NM_201253.2:c.1885A>G
NR_047564.2:n.2046A>G

Protein change:

N517D

Molecular consequence:

NM_001193640.2:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.1678A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257966.2:c.1885A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.1885A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_047564.2:n.2046A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004029975	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004029975

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 17, 2023)

germline

clinical testing

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

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

Citations

PubMed

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa.

Yang Y, Yang Y, Huang L, Zhai Y, Li J, Jiang Z, Gong B, Fang H, Kim R, Yang Z, Sundaresan P, Zhu X, Zhou Y.

Sci Rep. 2016 Sep 27;6:33681. doi: 10.1038/srep33681.

PubMed [citation]

PMID:: 27670293
PMCID:: PMC5037368

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029975.1

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

Description

Variant summary: CRB1 c.1885A>G (p.Asn629Asp) results in a conservative amino acid change located in the Laminin G domain (IPR001791) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251266 control chromosomes (gnomAD v2.1, Exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1885A>G has been reported in the literature in at least one compound heterozygous individual affected with Retinal Dystrophy (e.g., Yang_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 27670293). No submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 3, 2023

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