NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) AND Retinitis pigmentosa

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 18, 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:: RCV001102321.4

Allele description [Variation Report for NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)]

NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)

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.1328T>C (p.Val443Ala)

Other names:

NM_000329.3(RPE65):c.1328T>C; p.Val443Ala

HGVS:

NC_000001.11:g.68431292A>G
NG_008472.2:g.23668T>C
NM_000329.3:c.1328T>CMANE SELECT
NP_000320.1:p.Val443Ala
NC_000001.10:g.68896975A>G
NC_000001.10:g.68896975A>G
NG_008472.1:g.23668T>C
NM_000329.2:c.1328T>C

Protein change:

V443A

Links:

dbSNP: rs1645824187

NCBI 1000 Genomes Browser:

rs1645824187

Molecular consequence:

NM_000329.3:c.1328T>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001258988	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Sep 18, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27102010, 20811047 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001258988

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Sep 18, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.

Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT.

Ophthalmology. 2016 Jul;123(7):1606-20. doi: 10.1016/j.ophtha.2016.03.003. Epub 2016 Apr 19.

PubMed [citation]

PMID:: 27102010

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106.

PubMed [citation]

PMID:: 20811047

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001258988.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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 29, 2024

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