NM_000261.2(MYOC):c.1091G>T (p.Gly364Val) AND Glaucoma 1, open angle, A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 7, 2018
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:: RCV000008410.6

Allele description [Variation Report for NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)]

NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)

Gene:

MYOC:myocilin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.3

Genomic location:

Preferred name:

NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)

Other names:

MYOC, GLY357VAL; NM_000261.2(MYOC):c.1091G>T

HGVS:

NC_000001.11:g.171636349C>A
NG_008859.1:g.21285G>T
NM_000261.2:c.1091G>TMANE SELECT
NP_000252.1:p.Gly364Val
NC_000001.10:g.171605489C>A
Q99972:p.Gly364Val

Protein change:

G364V

Links:

UniProtKB: Q99972#VAR_005470; OMIM: 601652.0002; dbSNP: rs121909193

Molecular consequence:

NM_000261.2:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glaucoma 1, open angle, A (GLC1A)
Synonyms:: Glaucoma, Dominant (Juvenile Onset)
Identifiers:: MONDO: MONDO:0007664; MedGen: C1842028; Orphanet: 98977; OMIM: 137750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028618	OMIM	no assertion criteria provided	Pathogenic (Nov 7, 2018)	germline	literature only	Stone, E. M. Personal Communication. 1999. Iowa City, Iowa

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028618

OMIM

no assertion criteria provided

Pathogenic
(Nov 7, 2018)

germline

literature only

Stone, E. M. Personal Communication. 1999. Iowa City, Iowa

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000028618.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In 2 families, including a previously unreported adult-onset open angle glaucoma (137750) family with 15 affected members, Stone et al. (1997) detected a gly357-to-val mutation in the TIGR gene.

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

Last Updated: Feb 1, 2026

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