NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter) AND Retinitis pigmentosa 64

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 28, 2017
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:: RCV000477743.1

Allele description [Variation Report for NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)]

NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)

Gene:

CFAP418:cilia and flagella associated protein 418 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)

Other names:

C8ORF37, TRP185TER

HGVS:

NC_000008.11:g.95247686C>T
NG_032804.1:g.26549G>A
NM_001363260.1:c.459G>A
NM_177965.4:c.555G>AMANE SELECT
NP_001350189.1:p.Trp153Ter
NP_808880.1:p.Trp185Ter
NC_000008.10:g.96259914C>T
NM_177965.3:c.555G>A

Protein change:

W153*; TRP185TER

Links:

OMIM: 614477.0006; dbSNP: rs748014296

NCBI 1000 Genomes Browser:

rs748014296

Molecular consequence:

NM_001363260.1:c.459G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_177965.4:c.555G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Retinitis pigmentosa 64 (RP64)
Identifiers:: MONDO: MONDO:0800359; MedGen: C3281046

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564240	OMIM	no assertion criteria provided	Pathogenic (Mar 28, 2017)	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

SCV000564240

OMIM

no assertion criteria provided

Pathogenic
(Mar 28, 2017)

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

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M.

Mol Vis. 2015;21:236-43.

PubMed [citation]

PMID:: 25802487
PMCID:: PMC4357040

Details of each submission

From OMIM, SCV000564240.1

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

Description

In a sister and brother from a consanguineous family of Pakistani origin (MA13) with retinitis pigmentosa (RP64; see 614500), Ravesh et al. (2015) identified homozygosity for a c.555G-A transition (c.555G-A, NM_177965.3) in exon 6 of the C8ORF37 gene, resulting in a trp185-to-ter (W185X) substitution. The mutation segregated fully with disease in the family and was not found in 8,244 South Asian exomes in the ExAC database.

#	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 29, 2024

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