NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) AND Autosomal recessive congenital ichthyosis 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000791216.11

Allele description [Variation Report for NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)]

NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)

Genes:

NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
LOC129995124:ATAC-STARR-seq lymphoblastoid silent region 16559 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)

HGVS:

NC_000005.10:g.157460136T>C
NG_016626.1:g.5118T>C
NG_174570.1:g.130T>C
NM_001099287.1:c.2T>C
NM_001172292.1:c.2T>C
NP_001092757.1:p.Met1Thr
NP_001165763.1:p.Met1Thr
NC_000005.9:g.156887144T>C

Protein change:

M1T

Links:

dbSNP: rs1581262988

NCBI 1000 Genomes Browser:

rs1581262988

Molecular consequence:

NM_001099287.1:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001172292.1:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 6 (ARCI6)
Identifiers:: MONDO: MONDO:0012847; MedGen: C2677065; Orphanet: 313; Orphanet: 79394; OMIM: 612281

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000930502	Institute for Human Genetics, University Medical Center Freiburg	no assertion criteria provided	Pathogenic (May 16, 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

SCV000930502

Institute for Human Genetics, University Medical Center Freiburg

no assertion criteria provided

Pathogenic
(May 16, 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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.

Palamar M, Onay H, Ertam I, Ates EA, Dereli T, Ozkinay F, Yagci A.

Ophthalmic Genet. 2015;36(3):229-33. doi: 10.3109/13816810.2013.870215.

PubMed [citation]

PMID:: 24397709

Details of each submission

From Institute for Human Genetics, University Medical Center Freiburg, SCV000930502.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 4, 2025

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