NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp) AND Neuroocular syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2024
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:: RCV004577553.1

Allele description [Variation Report for NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)]

NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)

Gene:

PRR12:proline rich 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)

HGVS:

NC_000019.10:g.49597840C>T
NG_051202.1:g.11664C>T
NM_020719.3:c.3505C>TMANE SELECT
NP_065770.1:p.Arg1169Trp
NC_000019.9:g.50101097C>T

Protein change:

R1169W; ARG1169TRP

Links:

OMIM: 616633.0005; dbSNP: rs1435355373

NCBI 1000 Genomes Browser:

rs1435355373

Molecular consequence:

NM_020719.3:c.3505C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuroocular syndrome 1 (NOC1)
Identifiers:: MONDO: MONDO:0971007; MedGen: CN377731; OMIM: 619539

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934626	OMIM	no assertion criteria provided	Pathogenic (Apr 30, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001934626

OMIM

no assertion criteria provided

Pathogenic
(Apr 30, 2024)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, et al.

Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6.

PubMed [citation]

PMID:: 33824499

Details of each submission

From OMIM, SCV001934626.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 5-month-old Filipino boy (patient 15) with neuroocular syndrome (NOC1; 619539), Chowdhury et al. (2021) identified heterozygosity for a c.3505C-T transition (c.3505C-T, NM_020719.3) in exon 4 of the PRR12 gene, resulting in an arg1169-to-trp (R1169W) substitution within the AT-hook domain. Segregation analysis revealed that the mutation arose de novo in the proband.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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