NM_001080442.3(SLC38A8):c.632+1G>A AND Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome - ClinVar

NM_001080442.3(SLC38A8):c.632+1G>A AND Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2020
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:: RCV001270484.1

Allele description [Variation Report for NM_001080442.3(SLC38A8):c.632+1G>A]

NM_001080442.3(SLC38A8):c.632+1G>A

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.632+1G>A

HGVS:

NC_000016.10:g.84031866C>T
NG_034136.1:g.15292G>A
NM_001080442.3:c.632+1G>AMANE SELECT
NC_000016.9:g.84065471C>T
NM_001080442.2:c.632+1G>A

Links:

dbSNP: rs1473492838

NCBI 1000 Genomes Browser:

rs1473492838

Molecular consequence:

NM_001080442.3:c.632+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Synonyms:: Foveal hypoplasia 2; FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS; FOVEAL HYPOPLASIA 2 WITH OR WITHOUT MICROPHTHALMIA OR COLOBOMA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012216; MedGen: C3807873; Orphanet: 397618; OMIM: 609218

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450778	Inherited Eye Disorders lab, UCL Institute of Ophthalmology	no assertion criteria provided	Pathogenic (Dec 16, 2020)	inherited	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450778

Inherited Eye Disorders lab, UCL Institute of Ophthalmology

no assertion criteria provided

Pathogenic
(Dec 16, 2020)

inherited

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Inherited Eye Disorders lab, UCL Institute of Ophthalmology, SCV001450778.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 10, 2023

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