NM_001330311.2(DVL1):c.1594del (p.Trp532fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 20, 2023
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:: RCV003223617.1

Allele description [Variation Report for NM_001330311.2(DVL1):c.1594del (p.Trp532fs)]

NM_001330311.2(DVL1):c.1594del (p.Trp532fs)

Gene:

DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_001330311.2(DVL1):c.1594del (p.Trp532fs)

HGVS:

NC_000001.11:g.1338097del
NG_008048.2:g.16016del
NM_001330311.2:c.1594delMANE SELECT
NM_004421.3:c.1519del
NP_001317240.1:p.Trp532fs
NP_004412.2:p.Trp507fs
NC_000001.10:g.1273477del
NG_008048.1:g.16016del
NM_001330311.1:c.1594del
NP_004412.2:p.Trp507GlyfsTer142

Protein change:

W507fs

Links:

OMIM: 601365.0004; dbSNP: rs797044835

NCBI 1000 Genomes Browser:

rs797044835

Molecular consequence:

NM_001330311.2:c.1594del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004421.3:c.1519del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919668	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919668

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 20, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV003919668.1

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

Description

Frameshift variant predicted to result in protein truncation, as the last 164 amino acids are replaced with 141 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies suggest a damaging gain of function effect (Bunn et al., 2015); This variant is associated with the following publications: (PMID: 30266093, 25817016, 25817014, 32888393, 33237614, 35047859)

#	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: Apr 30, 2023

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