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NM_000329.3(RPE65):c.978G>T (p.Val326=) AND Retinitis pigmentosa

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 28, 2017
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:
RCV001100477.4

Allele description [Variation Report for NM_000329.3(RPE65):c.978G>T (p.Val326=)]

NM_000329.3(RPE65):c.978G>T (p.Val326=)

Gene:
RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_000329.3(RPE65):c.978G>T (p.Val326=)
HGVS:
  • NC_000001.11:g.68438962C>A
  • NG_008472.2:g.15998G>T
  • NM_000329.3:c.978G>TMANE SELECT
  • NP_000320.1:p.Val326=
  • NC_000001.10:g.68904645C>A
  • NG_008472.1:g.15998G>T
  • NM_000329.2:c.978G>T
Links:
dbSNP: rs61752907
NCBI 1000 Genomes Browser:
rs61752907
Molecular consequence:
  • NM_000329.3:c.978G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001256999Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Dec 28, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.

Bereta G, Kiser PD, Golczak M, Sun W, Heon E, Saperstein DA, Palczewski K.

Biochemistry. 2008 Sep 16;47(37):9856-65. doi: 10.1021/bi800905v. Epub 2008 Aug 23.

PubMed [citation]
PMID:
18722466
PMCID:
PMC2610467

Finding and interpreting genetic variations that are important to ophthalmologists.

Stone EM.

Trans Am Ophthalmol Soc. 2003;101:437-84. Review.

PubMed [citation]
PMID:
14971589
PMCID:
PMC1359000
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001256999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Mar 5, 2024