NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro) AND Corneal dystrophy, Meesmann, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2022
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:: RCV003389571.1

Allele description [Variation Report for NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)]

NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)

Gene:

KRT12:keratin 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)

HGVS:

NC_000017.11:g.40863258A>G
NG_008077.1:g.8953T>C
NM_000223.4:c.1181T>CMANE SELECT
NP_000214.1:p.Leu394Pro
LRG_1343t1:c.1181T>C
LRG_1343:g.8953T>C
LRG_1343p1:p.Leu394Pro
NC_000017.10:g.39019510A>G

Protein change:

L394P

Molecular consequence:

NM_000223.4:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Corneal dystrophy, Meesmann, 1
Identifiers:: MONDO: MONDO:0020791; MedGen: C5231499; Orphanet: 98954; OMIM: 122100

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
SCV004101695	DBGen Ocular Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2022)	inherited	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

SCV004101695

DBGen Ocular Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2022)

inherited

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	inherited	yes	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 DBGen Ocular Genomics, SCV004101695.1

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

Description

Class 4 ACMG Guidelines, 2015 (PMID:25741868)

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

Last Updated: Nov 25, 2023

ClinVar

Relating variation to medicine