NM_000359.3(TGM1):c.1261A>G (p.Met421Val) AND Autosomal recessive congenital ichthyosis 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 10, 2018
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:: RCV000672015.1

Allele description [Variation Report for NM_000359.3(TGM1):c.1261A>G (p.Met421Val)]

NM_000359.3(TGM1):c.1261A>G (p.Met421Val)

Gene:

TGM1:transglutaminase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_000359.3(TGM1):c.1261A>G (p.Met421Val)

HGVS:

NC_000014.9:g.24258572T>C
NG_007150.1:g.9595A>G
NM_000359.3:c.1261A>GMANE SELECT
NP_000350.1:p.Met421Val
NC_000014.8:g.24727778T>C
NM_000359.2:c.1261A>G

Protein change:

M421V

Links:

dbSNP: rs752670603

NCBI 1000 Genomes Browser:

rs752670603

Molecular consequence:

NM_000359.3:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive congenital ichthyosis 1 (LI1)
Synonyms:: ICHTHYOSIS CONGENITA II; Ichthyosis congenita; Lamellar exfoliation of newborn; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009441; MedGen: C4551630; OMIM: 242300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797068	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 10, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797068

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jan 10, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.

PubMed [citation]

PMID:: 19241467
PMCID:: PMC3243309

Details of each submission

From Counsyl, SCV000797068.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

ClinVar

Relating variation to medicine