NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) AND Adult-onset foveomacular vitelliform dystrophy

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 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:: RCV001165230.5

Allele description [Variation Report for NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)]

NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)

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.37C>T (p.Arg13Trp)

HGVS:

NC_000006.12:g.42722298G>A
NG_009176.2:g.5323C>T
NM_000322.5:c.37C>TMANE SELECT
NP_000313.2:p.Arg13Trp
NC_000006.11:g.42690036G>A
NG_009176.1:g.5323C>T
NM_000322.4:c.37C>T

Protein change:

R13W

Links:

dbSNP: rs61754402

NCBI 1000 Genomes Browser:

rs61754402

Molecular consequence:

NM_000322.5:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Adult-onset foveomacular vitelliform dystrophy
Synonyms:: FOVEOMACULAR DYSTROPHY, ADULT-ONSET; Macular dystrophy, vitelliform, adult-onset; FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION
Identifiers:: MONDO: MONDO:0011979; MedGen: C1842914; Orphanet: 99000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001327406	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25474345, 24629188 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001327406

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 28, 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

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R.

Genet Med. 2015 Apr;17(4):262-70. doi: 10.1038/gim.2014.174. Epub 2014 Dec 4.

PubMed [citation]

PMID:: 25474345
PMCID:: PMC4385427

Application of evolutionary based in silico methods to predict the impact of single amino acid substitutions in vitelliform macular dystrophy.

George Priya Doss C, Chakraborty C, Monford Paul Abishek N, Thirumal Kumar D, Narayanan V.

Adv Protein Chem Struct Biol. 2014;94:177-267. doi: 10.1016/B978-0-12-800168-4.00006-8. Review.

PubMed [citation]

PMID:: 24629188

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001327406.1

#	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	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: Nov 3, 2024

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