NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001530279.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)]

NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)

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.377T>C (p.Leu126Pro)

HGVS:

NC_000006.12:g.42721958A>G
NG_009176.2:g.5663T>C
NM_000322.5:c.377T>CMANE SELECT
NP_000313.2:p.Leu126Pro
NC_000006.11:g.42689696A>G
NM_000322.4:c.377T>C

Protein change:

L126P

Links:

dbSNP: rs2152010976

NCBI 1000 Genomes Browser:

rs2152010976

Molecular consequence:

NM_000322.5:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001745037	Leiden Open Variation Database	no assertion criteria provided	Likely pathogenic (Apr 6, 2021)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 19038374, 25447119

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001745037

Leiden Open Variation Database

no assertion criteria provided

Likely pathogenic
(Apr 6, 2021)

germline

curation

PubMed (2)
[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	curation

Citations

PubMed

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.

Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26.

PubMed [citation]

PMID:: 19038374

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, et al.

Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5.

PubMed [citation]

PMID:: 25447119

Details of each submission

From Leiden Open Variation Database, SCV001745037.1

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

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

#	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: Sep 29, 2024

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