NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu) AND SLC35A2-congenital disorder of glycosylation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 2021
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:: RCV000554593.7

Allele description [Variation Report for NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)]

NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)

Gene:

SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_005660.3(SLC35A2):c.958G>T (p.Val320Leu)

HGVS:

NC_000023.11:g.48904951C>A
NG_015967.1:g.12034C>A
NG_034300.1:g.12008G>T
NM_001032289.3:c.427-59G>T
NM_001042498.3:c.958G>T
NM_001282647.2:c.427-59G>T
NM_001282648.2:c.355-59G>T
NM_001282649.2:c.775G>T
NM_001282650.2:c.997G>T
NM_001282651.2:c.1042G>T
NM_005660.3:c.958G>TMANE SELECT
NP_001035963.1:p.Val320Leu
NP_001269578.1:p.Val259Leu
NP_001269579.1:p.Val333Leu
NP_001269580.1:p.Val348Leu
NP_005651.1:p.Val320Leu
NC_000023.10:g.48762228C>A
NM_001042498.2:c.958G>T

Protein change:

V259L

Links:

dbSNP: rs140079332

NCBI 1000 Genomes Browser:

rs140079332

Molecular consequence:

NM_001032289.3:c.427-59G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001282647.2:c.427-59G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001282648.2:c.355-59G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001042498.3:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282649.2:c.775G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282650.2:c.997G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282651.2:c.1042G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_005660.3:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SLC35A2-congenital disorder of glycosylation
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG IIm; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm, SOMATIC MOSAIC; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010478; MedGen: C3806688; Orphanet: 356961; OMIM: 300896

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000653797	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 31, 2021)	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

SCV000653797

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 31, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000653797.4

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

Description

This sequence change replaces valine with leucine at codon 320 of the SLC35A2 protein (p.Val320Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLC35A2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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