NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) AND Autosomal recessive Robinow syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 2017
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:: RCV001168499.4

Allele description [Variation Report for NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)]

NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)

Gene:

ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.31

Genomic location:

Preferred name:

NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)

HGVS:

NC_000009.12:g.91724911C>T
NG_008089.1:g.230252G>A
NM_004560.4:c.1583G>AMANE SELECT
NP_004551.2:p.Arg528Gln
NC_000009.11:g.94487193C>T
NM_004560.3:c.1583G>A

Protein change:

R528Q

Links:

dbSNP: rs142215888

NCBI 1000 Genomes Browser:

rs142215888

Molecular consequence:

NM_004560.4:c.1583G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive Robinow syndrome (RRS1)
Synonyms:: COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA; COVESDEM SYNDROME; ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
Identifiers:: MONDO: MONDO:0009999; MedGen: C5399974; Orphanet: 1507; Orphanet: 97360; OMIM: 268310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001331095	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Aug 24, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26284319, 18252861 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001331095

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Aug 24, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA.

Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18.

PubMed [citation]

PMID:: 26284319

High-throughput sequence analysis of the tyrosine kinome in acute myeloid leukemia.

Loriaux MM, Levine RL, Tyner JW, Fröhling S, Scholl C, Stoffregen EP, Wernig G, Erickson H, Eide CA, Berger R, Bernard OA, Griffin JD, Stone RM, Lee B, Meyerson M, Heinrich MC, Deininger MW, Gilliland DG, Druker BJ.

Blood. 2008 May 1;111(9):4788-96. doi: 10.1182/blood-2007-07-101394. Epub 2008 Feb 5.

PubMed [citation]

PMID:: 18252861
PMCID:: PMC2343606

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001331095.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown 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: May 16, 2025

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