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NM_000261.2(MYOC):c.1309T>C (p.Tyr437His) AND Glaucoma 1, open angle, A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 1998
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:
RCV000008409.4

Allele description [Variation Report for NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)]

NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)
Other names:
NM_000261.2(MYOC):c.1309T>C
HGVS:
  • NC_000001.11:g.171636131A>G
  • NG_008859.1:g.21503T>C
  • NM_000261.2:c.1309T>CMANE SELECT
  • NP_000252.1:p.Tyr437His
  • NC_000001.10:g.171605271A>G
  • Q99972:p.Tyr437His
Protein change:
Y437H; TYR437HIS
Links:
UniProtKB: Q99972#VAR_005474; OMIM: 601652.0001; dbSNP: rs74315328
NCBI 1000 Genomes Browser:
rs74315328
Molecular consequence:
  • NM_000261.2:c.1309T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028617OMIM
no assertion criteria provided
Pathogenic
(Apr 9, 1998) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE.

Nat Genet. 1993 May;4(1):47-50.

PubMed [citation]
PMID:
8513321

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM.

N Engl J Med. 1998 Apr 9;338(15):1022-7.

PubMed [citation]
PMID:
9535666

Details of each submission

From OMIM, SCV000028617.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In all 22 affected members of the original family in which Sheffield et al. (1993) demonstrated linkage of open angle glaucoma to 1q (137750), Stone et al. (1997) demonstrated a tyr430-to-his mutation (TYR430HIS) in the TIGR gene.

Alward et al. (1998) referred to this mutation as tyr437 to his (Y437H), noting that the numbering used by Stone et al. (1997) resulted from an error in the cDNA sequence originally submitted to GenBank. Alward et al. (1998) found 27 patients in 2 families with primary open angle glaucoma due to the Y437H mutation in the MYOC gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 24, 2022