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NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu) AND Keratoconus

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 2024
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:
RCV003156153.3

Allele description [Variation Report for NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)]

NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)

Gene:
EML6:EMAP like 6 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.1
Genomic location:
Preferred name:
NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)
HGVS:
  • NC_000002.12:g.54891143G>T
  • NM_001039753.4:c.2528G>TMANE SELECT
  • NP_001034842.2:p.Trp843Leu
  • NC_000002.11:g.55118280G>T
Protein change:
W843L
Molecular consequence:
  • NM_001039753.4:c.2528G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Keratoconus (KC)
Synonyms:
Noninflammatory corneal thining
Identifiers:
MONDO: MONDO:0015486; MeSH: D007640; MedGen: C0022578; OMIM: PS148300; Human Phenotype Ontology: HP:0000563

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842310Refractive Surgery Department, Bright Eye Hospital
no assertion criteria provided
Uncertain significance
(May 10, 2024) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Haninheritedyes21not providednot providednot providedclinical testing

Details of each submission

From Refractive Surgery Department, Bright Eye Hospital, SCV003842310.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han2not providednot providedclinical testingnot provided

Description

EML6 is a large protein (1958 aa) in the microtubule-associated protein family. The effect of microtubules on protein traffic as well as the function of EML6 in the eye are not fully known.27 However, a study demonstrated an association between genome-wide association studies and refractive errors (especially astigmatism). KC patients usually have astigmatism, and this is also an important clinical indicator for monitoring the pathologic process.28 In 2021, Shinde et al.29 revealed that EML6 exists in the corneal epithelium and stroma and identified two heterozygous missense variations in the Tryp-Asp (WD) dipeptide repeat domains. Furthermore, the immunocytochemistrical feature of the corneal cytoskeletal structure in KC patients was investigated in their study, which showed that EML6 may exist in the microtubules of the cytoskeletal network of cultured keratocytes. This is a very important finding because EML1–4 and not EML5 and 6 are reportedly related to the microtubule and its regulation. In this study, a missense mutation (g.55118280G>T, c.2528G>T, p.Trp843Leu) was detected and was predicted as probably damaging.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Jun 23, 2024