NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 24, 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:: RCV001211497.5

Allele description [Variation Report for NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)]

NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)

Gene:

PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)

HGVS:

NC_000017.11:g.1650909G>A
NG_009118.1:g.38974C>T
NG_033061.1:g.4190C>T
NM_006445.4:c.6901C>TMANE SELECT
NP_006436.3:p.Pro2301Ser
NC_000017.10:g.1554203G>A
NM_006445.3:c.6901C>T

Protein change:

P2301S

Links:

dbSNP: rs121434239

NCBI 1000 Genomes Browser:

rs121434239

Molecular consequence:

NM_006445.4:c.6901C>T - 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
SCV001383038	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 24, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17061239, 23950152, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001383038

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 24, 2022)

germline

clinical testing

PubMed (3)
[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

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.

Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F.

Eur J Ophthalmol. 2006 Sep-Oct;16(5):779-81.

PubMed [citation]

PMID:: 17061239

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.

PubMed [citation]

PMID:: 23950152
PMCID:: PMC3778873

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001383038.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is expected to disrupt PRPF8 protein function. ClinVar contains an entry for this variant (Variation ID: 867220). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 17061239, 23950152). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2301 of the PRPF8 protein (p.Pro2301Ser).

#	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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