NM_021224.6(ZNF462):c.4180del (p.Trp1394fs) AND Weiss-Kruszka syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Dec 4, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003448886.3

Allele description [Variation Report for NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)]

NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)

Gene:

ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q31.2

Genomic location:

Preferred name:

NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)

HGVS:

NC_000009.12:g.106928092del
NG_052913.1:g.69996del
NM_001347997.2:c.3252+928del
NM_021224.6:c.4180delMANE SELECT
NP_067047.4:p.Trp1394fs
NC_000009.11:g.109690373del

Protein change:

W1394fs

Links:

dbSNP: rs2538791482

NCBI 1000 Genomes Browser:

rs2538791482

Molecular consequence:

NM_021224.6:c.4180del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347997.2:c.3252+928del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Weiss-Kruszka syndrome
Synonyms:: Metopic ridging-ptosis-facial dysmorphism syndrome
Identifiers:: MONDO: MONDO:0032836; MedGen: C5568107; Orphanet: 502430; OMIM: 618619

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004176710	Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 4, 2023)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244507	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 22, 2023)	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

SCV004176710

Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 4, 2023)

de novo

clinical testing

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

SCV004244507

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 22, 2023)

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	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, SCV004176710.2

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

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

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV004244507.1

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

Description

PVS1, PM2

#	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: May 16, 2025

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