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NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter) AND Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 5, 2013
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:
RCV000111472.3

Allele description [Variation Report for NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)]

NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)

Gene:
SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.3
Genomic location:
Preferred name:
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)
HGVS:
  • NC_000016.10:g.84031901G>A
  • NG_034136.1:g.15257C>T
  • NM_001080442.3:c.598C>TMANE SELECT
  • NP_001073911.1:p.Gln200Ter
  • NC_000016.9:g.84065506G>A
Protein change:
Q200*; GLN200TER
Links:
OMIM: 615585.0006; dbSNP: rs149592537
NCBI 1000 Genomes Browser:
rs149592537
Molecular consequence:
  • NM_001080442.3:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
Identifiers:
MedGen: C4017389

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000143914OMIM
no assertion criteria provided
Pathogenic
(Dec 5, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, et al.

Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Review.

PubMed [citation]
PMID:
24290379
PMCID:
PMC3853409

Details of each submission

From OMIM, SCV000143914.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sisters of northern European origin with foveal hypoplasia and optic nerve misrouting (FVH2; 609218), 1 of whom also had Axenfeld anomaly (see 602482), Poulter et al. (2013) identified compound heterozygosity for a c.598C-T transition in exon 4 of the SLC38A8 gene, resulting in a gln200-to-ter (Q200X) substitution, and a 3-bp deletion in exon 7 (c.845_847delCTG), resulting in deletion of a highly conserved alanine at codon 282 (ala282del; 615585.0007). The girls' parents were each heterozygous for 1 of the mutations, neither of which was found in ethnically matched controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024