NM_000322.5(PRPH2):c.1A>G (p.Met1Val) AND PRPH2-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 27, 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:: RCV001202664.8

Allele description [Variation Report for NM_000322.5(PRPH2):c.1A>G (p.Met1Val)]

NM_000322.5(PRPH2):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)

HGVS:

NC_000006.12:g.42722334T>C
NG_009176.2:g.5287A>G
NM_000322.5:c.1A>GMANE SELECT
NP_000313.2:p.Met1Val
NC_000006.11:g.42690072T>C
NG_009176.1:g.5287A>G
NM_000322.4:c.1A>G

Protein change:

M1V

Links:

dbSNP: rs1761921867

NCBI 1000 Genomes Browser:

rs1761921867

Molecular consequence:

NM_000322.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000322.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001373787	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Jan 27, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9338584, 25472526, 29555955, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001373787

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Jan 27, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

Felbor U, Schilling H, Weber BH.

Hum Mutat. 1997;10(4):301-9.

PubMed [citation]

PMID:: 9338584

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R.

Hum Genet. 2015 Feb;134(2):217-30. doi: 10.1007/s00439-014-1512-7. Epub 2014 Dec 4.

PubMed [citation]

PMID:: 25472526
PMCID:: PMC4347882

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001373787.6

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

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 934303). Disruption of the initiator codon has been observed in individuals with clinical features of autosomal dominant PRPH2-related conditions (PMID: 9338584, 25472526, 29555955). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PRPH2 mRNA. The next in-frame methionine is located at codon 23.

#	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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