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NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) AND PRPH2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 17, 2023
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:
RCV001232080.8

Allele description [Variation Report for NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)]

NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)

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.271T>A (p.Tyr91Asn)
HGVS:
  • NC_000006.12:g.42722064A>T
  • NG_009176.2:g.5557T>A
  • NM_000322.5:c.271T>AMANE SELECT
  • NP_000313.2:p.Tyr91Asn
  • NC_000006.11:g.42689802A>T
  • NG_009176.1:g.5557T>A
  • NM_000322.4:c.271T>A
Protein change:
Y91N
Links:
dbSNP: rs747893076
NCBI 1000 Genomes Browser:
rs747893076
Molecular consequence:
  • NM_000322.5:c.271T>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001404625Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 17, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.

Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359.

PubMed [citation]
PMID:
25082885
PMCID:
PMC4152151

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

Duncker T, Tsang SH, Woods RL, Lee W, Zernant J, Allikmets R, Delori FC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3159-70. doi: 10.1167/iovs.14-16343.

PubMed [citation]
PMID:
26024099
PMCID:
PMC4451616
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001404625.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 193083). This missense change has been observed in individual(s) with PRPH2-related disease (PMID: 25082885, 26024099, 32531846; Invitae). This variant is present in population databases (rs747893076, gnomAD 0.1%). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 91 of the PRPH2 protein (p.Tyr91Asn).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024