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NM_021615.5(CHST6):c.631C>T (p.Arg211Trp) AND Macular corneal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2023
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:
RCV003404770.1

Allele description [Variation Report for NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)]

NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)

Gene:
CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)
HGVS:
  • NC_000016.10:g.75479198G>A
  • NG_016442.2:g.21244C>T
  • NM_021615.5:c.631C>TMANE SELECT
  • NP_067628.1:p.Arg211Trp
  • LRG_1252t1:c.631C>T
  • LRG_1252:g.21244C>T
  • LRG_1252p1:p.Arg211Trp
  • NC_000016.9:g.75513096G>A
Protein change:
R211W
Molecular consequence:
  • NM_021615.5:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macular corneal dystrophy (MCD)
Synonyms:
Macular dystrophy, corneal type 1; Groenouw type II corneal dystrophy; Macular corneal dystrophy Type I
Identifiers:
MONDO: MONDO:0009020; MedGen: C1636149; Orphanet: 98969; OMIM: 217800

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004122152Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Oct 25, 2023) 		germlineclinical testing

PubMed (2)
[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

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W, Qu N, Li JK, Li YX, Han DM, Chen YX, Tian L, Shao K, Yang W, Wang ZS, Chen X, Jin XY, Wang ZW, Liang C, Qian WP, Wang LS, He W.

Front Cell Dev Biol. 2021;9:632946. doi: 10.3389/fcell.2021.632946.

PubMed [citation]
PMID:
33816482
PMCID:
PMC8012530

Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.

Iida-Hasegawa N, Furuhata A, Hayatsu H, Murakami A, Fujiki K, Nakayasu K, Kanai A.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3272-7.

PubMed [citation]
PMID:
12882769

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122152.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: CHST6 c.631C>T (p.Arg211Trp) results in a non-conservative amino acid change located in the sulfotransferase domain (IPR000863) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 241210 control chromosomes (gnomAD). c.631C>T has been reported in the literature in multiple individuals affected with Macular Corneal Dystrophy (examples: Iida-Hasegawa_2003 and Li_2021). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 33816482, 12882769). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Nov 25, 2023