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NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) AND Leber congenital amaurosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2020
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:
RCV001835424.1

Allele description [Variation Report for NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)]

NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)

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.4163G>A (p.Gly1388Asp)
HGVS:
  • NC_000001.11:g.197477821G>A
  • NG_008483.2:g.281360G>A
  • NM_001193640.2:c.3827G>A
  • NM_001257965.2:c.4091G>A
  • NM_001257966.2:c.2555G>A
  • NM_201253.3:c.4163G>AMANE SELECT
  • NP_001180569.1:p.Gly1276Asp
  • NP_001244894.1:p.Gly1364Asp
  • NP_001244895.1:p.Gly852Asp
  • NP_957705.1:p.Gly1388Asp
  • NC_000001.10:g.197446951G>A
  • NM_201253.2:c.4163G>A
  • NR_047563.2:n.4116G>A
  • NR_047564.2:n.4566G>A
Protein change:
G1276D
Links:
dbSNP: rs765740058
NCBI 1000 Genomes Browser:
rs765740058
Molecular consequence:
  • NM_001193640.2:c.3827G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257965.2:c.4091G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257966.2:c.2555G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201253.3:c.4163G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047563.2:n.4116G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.4566G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002090222Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 25, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002090222.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024