NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 15, 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:: RCV003558836.1

Allele description [Variation Report for NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)]

NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)

Gene:

COL17A1:collagen type XVII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.1

Genomic location:

Preferred name:

NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)

HGVS:

NC_000010.11:g.104035303C>T
NG_007069.1:g.55578G>A
NM_000494.4:c.3579G>AMANE SELECT
NP_000485.3:p.Trp1193Ter
LRG_1249t1:c.3579G>A
LRG_1249:g.55578G>A
LRG_1249p1:p.Trp1193Ter
NC_000010.10:g.105795061C>T

Protein change:

W1193*

Links:

dbSNP: rs1237394833

NCBI 1000 Genomes Browser:

rs1237394833

Molecular consequence:

NM_000494.4:c.3579G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004295717	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 15, 2023)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 16473856, 17344927, 20301304, 21357940, 24319098, 28830826, 33393081, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004295717

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 15, 2023)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

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

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R, Sadowski S, Pfendner E, Uitto J.

J Med Genet. 2006 Aug;43(8):641-52. Epub 2006 Feb 10.

PubMed [citation]

PMID:: 16473856
PMCID:: PMC2564586

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.

Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF.

J Invest Dermatol. 2007 Jul;127(7):1772-5. Epub 2007 Mar 8. No abstract available. Erratum in: J Invest Dermatol. 2007 Nov;127(11):2678.

PubMed [citation]

PMID:: 17344927

See all PubMed Citations (8)

Details of each submission

From Invitae, SCV004295717.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Trp1193*) in the COL17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL17A1 are known to be pathogenic (PMID: 16473856, 17344927, 20301304, 21357940, 24319098). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1180606). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa (PMID: 28830826, 33393081). This variant is not present in population databases (gnomAD no frequency).

#	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 20, 2024

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