NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter) AND Pseudo-TORCH syndrome 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 15, 2019
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:: RCV001330739.5

Allele description [Variation Report for NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)]

NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)

Gene:

OCLN:occludin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)

HGVS:

NC_000005.10:g.69509196C>T
NG_028291.1:g.21905C>T
NM_001205254.2:c.106C>TMANE SELECT
NM_001205255.1:c.-24-4752C>T
NM_002538.4:c.106C>T
NP_001192183.1:p.Arg36Ter
NP_002529.1:p.Arg36Ter
NC_000005.9:g.68805023C>T
NM_002538.3:c.106C>T

Protein change:

R36*

Links:

dbSNP: rs373915080

NCBI 1000 Genomes Browser:

rs373915080

Molecular consequence:

NM_001205255.1:c.-24-4752C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001205254.2:c.106C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002538.4:c.106C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pseudo-TORCH syndrome 1 (PTORCH1)
Synonyms:: Band-like calcification with simplified gyration and polymicrogyria
Identifiers:: MONDO: MONDO:0020789; MedGen: C4552078; Orphanet: 1229; OMIM: 251290

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001522526	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 11, 2019)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002020572	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 15, 2019)	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

SCV001522526

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 11, 2019)

maternal

clinical testing

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

SCV002020572

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 15, 2019)

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	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 Baylor Genetics, SCV001522526.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

From Revvity Omics, Revvity, SCV002020572.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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