NM_016103.4(SAR1B):c.554G>T (p.Gly185Val) AND Chylomicron retention disease

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 18, 2022
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:: RCV000003063.4

Allele description [Variation Report for NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)]

NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)

Gene:

SAR1B:secretion associated Ras related GTPase 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)

HGVS:

NC_000005.10:g.134606993C>A
NG_017002.1:g.30851G>T
NM_001033503.3:c.554G>T
NM_016103.4:c.554G>TMANE SELECT
NP_001028675.1:p.Gly185Val
NP_057187.1:p.Gly185Val
NC_000005.9:g.133942683C>A

Protein change:

G185V; GLY185VAL

Links:

OMIM: 607690.0008; dbSNP: rs137853126

NCBI 1000 Genomes Browser:

rs137853126

Molecular consequence:

NM_001033503.3:c.554G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016103.4:c.554G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Chylomicron retention disease (CMRD)
Synonyms:: Lipid transport defect of intestine; Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
Identifiers:: MONDO: MONDO:0009528; MedGen: C0795956; Orphanet: 71; OMIM: 246700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023221	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002577541	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 18, 2022)	germline	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

SCV000023221

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2008)

germline

literature only

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

SCV002577541

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 18, 2022)

germline

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

Charcosset M, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A.

Mol Genet Metab. 2008 Jan;93(1):74-84. Epub 2007 Oct 22.

PubMed [citation]

PMID:: 17945526

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 OMIM, SCV000023221.2

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

Description

In a Portuguese child with chylomicron retention disease (CMRD; 246700), Charcosset et al. (2008) identified a homozygous 554G-T transversion in the SAR1B gene, resulting in a gly185-to-val (G185V) substitution.

#	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

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577541.1

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

Description

PM2, PP3, PP5

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

Last Updated: Dec 24, 2023

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