NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) AND PRPH2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 2, 2024
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:: RCV001039794.4

Allele description [Variation Report for NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)]

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

HGVS:

NC_000006.12:g.42722199G>A
NG_009176.2:g.5422C>T
NM_000322.5:c.136C>TMANE SELECT
NP_000313.2:p.Arg46Ter
NC_000006.11:g.42689937G>A
NG_009176.1:g.5422C>T
NM_000322.4:c.136C>T

Protein change:

R46*; ARG46TER

Links:

OMIM: 179605.0018; dbSNP: rs61755771

NCBI 1000 Genomes Browser:

rs61755771

Molecular consequence:

NM_000322.5:c.136C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: PRPH2-related disorder
Synonyms:: PRPH2-Related Disorders; PRPH2-related condition
Identifiers:: MedGen: CN239395

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001203341	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 2, 2024)	germline	clinical testing	PubMed (16) [See all records that cite these PMIDs] 8485575, 8485576, 8675410, 16916875, 17504850, 22863181, 25675413, 26061163, 27365499, 33546218, 7880786, 8111389, 25447119, 28559085, 29555955, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001203341

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 2, 2024)

germline

clinical testing

PubMed (16)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Kajiwara K, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Mar;3(3):208-12.

PubMed [citation]

PMID:: 8485575

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.

Nat Genet. 1993 Mar;3(3):213-8.

PubMed [citation]

PMID:: 8485576

See all PubMed Citations (16)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001203341.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

Description

This sequence change creates a premature translational stop signal (p.Arg46*) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 22863181, 25675413, 26061163, 27365499, 29555955, 33546218). This variant is present in population databases (rs61755771, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (adRP), macular dystrophy, or cone-rod dystrophy (PMID: 7880786, 8111389, 25447119, 28559085, 29555955). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13179). For these reasons, this variant has been classified as Pathogenic.

#	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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