NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 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:: RCV004815023.1

Allele description [Variation Report for NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)]

NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)

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.1717A>G (p.Ile573Val)

HGVS:

NC_000017.11:g.8009554A>G
NG_009092.1:g.11885A>G
NM_000180.4:c.1717A>GMANE SELECT
NP_000171.1:p.Ile573Val
NP_000171.1:p.Ile573Val
NC_000017.10:g.7912872A>G
NM_000180.3:c.1717A>G
Q02846:p.Ile573Val

Protein change:

I573V

Links:

UniProtKB: Q02846#VAR_009130; dbSNP: rs61749756

NCBI 1000 Genomes Browser:

rs61749756

Molecular consequence:

NM_000180.4:c.1717A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited 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
SCV005072853	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 1, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16123401, 31964843, 34426522, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005072853

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 1, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9.

PubMed [citation]

PMID:: 16123401

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.

Hanany M, Rivolta C, Sharon D.

Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2710-2716. doi: 10.1073/pnas.1913179117. Epub 2020 Jan 21.

PubMed [citation]

PMID:: 31964843
PMCID:: PMC7007541

See all PubMed Citations (4)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005072853.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Mar 11, 2025

ClinVar

Relating variation to medicine