NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) AND Encephalopathy

Germline classification:: Pathogenic (1 submission)
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:: RCV001526585.11

Allele description [Variation Report for NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)]

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)

Gene:

ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)

Other names:

S258L

HGVS:

NC_000016.10:g.5078789C>T
NG_009202.1:g.11981C>T
NM_001330504.2:c.440C>T
NM_019109.5:c.773C>TMANE SELECT
NP_001317433.1:p.Ser147Leu
NP_061982.3:p.Ser258Leu
NP_061982.3:p.Ser258Leu
NC_000016.9:g.5128790C>T
NM_019109.5:c.773C>T
Q9BT22:p.Ser258Leu

Protein change:

S147L; SER258LEU

Links:

UniProtKB: Q9BT22#VAR_023365; OMIM: 605907.0001; dbSNP: rs28939378

NCBI 1000 Genomes Browser:

rs28939378

Molecular consequence:

NM_001330504.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_019109.5:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Encephalopathy
Synonyms:: Unspecified encephalopathy
Identifiers:: MedGen: C0085584; Human Phenotype Ontology: HP:0001298

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737012	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737012

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

maternal

research

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001737012.1

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

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

Last Updated: Jul 5, 2025

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