NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro) AND Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome - ClinVar

NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro) AND Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 8, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001255623.2

Allele description [Variation Report for NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)]

NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)

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.913T>C (p.Ser305Pro)

HGVS:

NC_000016.10:g.84017180A>G
NG_034136.1:g.29978T>C
NM_001080442.3:c.913T>CMANE SELECT
NP_001073911.1:p.Ser305Pro
NP_001073911.1:p.Ser305Pro
NC_000016.9:g.84050785A>G
NM_001080442.2:c.913T>C
p.Ser305Pro

Protein change:

S305P

Links:

dbSNP: rs1057521634

NCBI 1000 Genomes Browser:

rs1057521634

Molecular consequence:

NM_001080442.3:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001432154	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 8, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432154

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 8, 2020)

de novo

clinical testing

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
Causasians	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001432154.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Aug 15, 2022

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