NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) AND Retinitis pigmentosa 94, variable age at onset

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 28, 2022
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:: RCV002279721.1

Allele description [Variation Report for NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)]

NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)

Gene:

SPATA7:spermatogenesis associated 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

Preferred name:

NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)

HGVS:

NC_000014.9:g.88433164T>C
NG_021183.1:g.52521T>C
NM_001040428.4:c.1016T>C
NM_018418.5:c.1112T>CMANE SELECT
NP_001035518.1:p.Ile339Thr
NP_060888.2:p.Ile371Thr
NC_000014.8:g.88899508T>C
NM_018418.4:c.1112T>C

Protein change:

I339T; ILE371THR

Links:

OMIM: 609868.0011; dbSNP: rs150364664

NCBI 1000 Genomes Browser:

rs150364664

Molecular consequence:

NM_001040428.4:c.1016T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018418.5:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 94, variable age at onset
Identifiers:: MONDO: MONDO:0800328; MedGen: C5676889

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002540620	OMIM	no assertion criteria provided	Pathogenic (Jun 28, 2022)	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

SCV002540620

OMIM

no assertion criteria provided

Pathogenic
(Jun 28, 2022)

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 homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D.

Ophthalmic Genet. 2018 Jan-Feb;39(1):131-134. doi: 10.1080/13816810.2017.1318925. Epub 2017 May 8. No abstract available.

PubMed [citation]

PMID:: 28481129

Details of each submission

From OMIM, SCV002540620.1

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

Description

In a German brother and sister with retinal degeneration, diagnosed with rod-cone and cone-rod dystrophy, respectively, Feldhaus et al. (2018) analyzed genomic DNA using a panel of 286 retinal disease-associated genes, and identified homozygosity for a missense mutation in the SPATA7 gene (I371T; 609868.0011). The variant, which was found at low minor allele frequency (0.0003249) in the ExAC database, was present in heterozygosity in their 85-year-old mother, who had normal age-related findings on all tests; DNA was unavailable from the father.

#	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

ClinVar

Relating variation to medicine