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NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) AND Leber congenital amaurosis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 2021
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:
RCV001376215.9

Allele description [Variation Report for NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)]

NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
HGVS:
  • NC_000017.11:g.8014700C>T
  • NG_009092.1:g.17031C>T
  • NM_000180.4:c.2512C>TMANE SELECT
  • NP_000171.1:p.Arg838Cys
  • NP_000171.1:p.Arg838Cys
  • NC_000017.10:g.7918018C>T
  • NM_000180.3:c.2512C>T
  • Q02846:p.Arg838Cys
Protein change:
R838C; ARG838CYS
Links:
UniProtKB: Q02846#VAR_003437; OMIM: 600179.0006; OMIM: 600179.0007; dbSNP: rs61750172
NCBI 1000 Genomes Browser:
rs61750172
Molecular consequence:
  • NM_000180.4:c.2512C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573282Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 8, 2021) 		germlineresearch

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

Jiang F, Xu K, Zhang X, Xie Y, Bai F, Li Y.

Doc Ophthalmol. 2015 Oct;131(2):105-14. doi: 10.1007/s10633-015-9509-7. Epub 2015 Aug 23.

PubMed [citation]
PMID:
26298565

Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.

Ito S, Nakamura M, Ohnishi Y, Miyake Y.

Jpn J Ophthalmol. 2004 May-Jun;48(3):228-35.

PubMed [citation]
PMID:
15175914
See all PubMed Citations (8)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573282.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (8)

Description

The GUCY2D c.2512C>T variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM1, PS3, PP1. Based on this evidence we have classified this variant as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024