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NM_000261.2(MYOC):c.158T>C (p.Val53Ala) AND MYOC-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV000778200.5

Allele description [Variation Report for NM_000261.2(MYOC):c.158T>C (p.Val53Ala)]

NM_000261.2(MYOC):c.158T>C (p.Val53Ala)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.158T>C (p.Val53Ala)
Other names:
NM_000261.2(MYOC):c.158T>C; p.Val53Ala
HGVS:
  • NC_000001.11:g.171652454A>G
  • NG_008859.1:g.5180T>C
  • NM_000261.2:c.158T>CMANE SELECT
  • NP_000252.1:p.Val53Ala
  • NC_000001.10:g.171621594A>G
  • NM_000261.1:c.158T>C
Protein change:
V53A
Links:
dbSNP: rs200208925
NCBI 1000 Genomes Browser:
rs200208925
Molecular consequence:
  • NM_000261.2:c.158T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MYOC-related disorder
Synonyms:
MYOC-Related Disorders; MYOC-related condition
Identifiers:
MedGen: CN239330

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914364Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Nov 21, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma.

Huang X, Li M, Guo X, Li S, Xiao X, Jia X, Liu X, Zhang Q.

Invest Ophthalmol Vis Sci. 2014 May 13;55(6):3594-602. doi: 10.1167/iovs.14-13927.

PubMed [citation]
PMID:
24825108

Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.

Yen YC, Yang JJ, Chou MC, Li SY.

Mol Vis. 2007 Sep 10;13:1627-34.

PubMed [citation]
PMID:
17893664
See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The MYOC c.158T>C (p.Val53Ala) missense variant has been reported in three studies in which it is found in a heterozygous state in three individuals with primary open angle glaucoma, including one juvenile onset patient (Pang et al. 2000; Yen et al. 2007; Huang et al. 2014). The variant was absent from 616 controls and is reported at a frequency of 0.00104 in the East Asian population of the Exome Aggregation Consortium (Pang et al. 2000; Yen et al. 2007; Huang et al. 2014). Based on the limited evidence, the p.Val53Ala variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYOC-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: May 12, 2024