NM_001172509.2(SATB2):c.67G>C (p.Val23Leu) AND Chromosome 2q32-q33 deletion syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 19, 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:: RCV003032306.4

Allele description [Variation Report for NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)]

NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)

Gene:

SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)

HGVS:

NC_000002.12:g.199455971C>G
NG_016976.2:g.20296G>C
NM_001172509.2:c.67G>CMANE SELECT
NM_001172517.1:c.67G>C
NM_015265.4:c.67G>C
NP_001165980.1:p.Val23Leu
NP_001165988.1:p.Val23Leu
NP_056080.1:p.Val23Leu
NC_000002.11:g.200320694C>G
NR_134967.2:n.727G>C

Protein change:

V23L

Molecular consequence:

NM_001172509.2:c.67G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001172517.1:c.67G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015265.4:c.67G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_134967.2:n.727G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Chromosome 2q32-q33 deletion syndrome (GLASS)
Synonyms:: Glass syndrome; 2q33.1 deletion syndrome
Identifiers:: MONDO: MONDO:0012864; MedGen: C2676739; Orphanet: 251019; OMIM: 612313

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003336074	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 19, 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

SCV003336074

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 19, 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	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, SCV003336074.3

#	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, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 23 of the SATB2 protein (p.Val23Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SATB2 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: Feb 25, 2025

ClinVar

Relating variation to medicine