NC_000019.9:g.(?_54626515)_(54627192_?)del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 7, 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:: RCV003119639.5

Allele description [Variation Report for NC_000019.9:g.(?_54626515)_(54627192_?)del]

NC_000019.9:g.(?_54626515)_(54627192_?)del

Gene:: PRPF31:pre-mRNA processing factor 31 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 19q13.42
Genomic location:: Chr19: 54626515 - 54627192 (on Assembly GRCh37)
Preferred name:: NC_000019.9:g.(?_54626515)_(54627192_?)del
HGVS:: NC_000019.9:g.(?_54626515)_(54627192_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Bunyaviridae Infections
Bunyaviridae Infections
Virus diseases caused by the BUNYAVIRIDAE.<br/>Year introduced: 1992

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003794090	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 7, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 30030392, 30360737, 16199547, 18317597, 23950152, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003794090

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 7, 2022)

germline

clinical testing

PubMed (6)
[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

Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.

Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM, Aleman TS, Bennett J.

Br J Ophthalmol. 2019 Jun;103(6):761-767. doi: 10.1136/bjophthalmol-2017-311405. Epub 2018 Jul 20.

PubMed [citation]

PMID:: 30030392
PMCID:: PMC6582727

Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.

Wu Z, Zhong M, Li M, Huang H, Liao J, Lu A, Guo K, Ma N, Lin J, Duan J, Liu L, Xu F, Zhong Z, Chen J.

Curr Mol Med. 2018;18(5):287-294. doi: 10.2174/1566524018666181024160452.

PubMed [citation]

PMID:: 30360737

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003794090.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRPF31 protein in which other variant(s) (p.Leu197Pro) have been determined to be pathogenic (PMID: 30030392, 30360737). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PRPF31-related conditions. This variant results in the deletion of exon 6 and part of exon 7 (c.421-318_592del) of the PRPF31 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PRPF31 are known to be pathogenic (PMID: 18317597, 23950152).

#	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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