NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) AND Macular corneal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2017
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:: RCV000660545.5

Allele description [Variation Report for NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)]

NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)

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.86C>T (p.Pro29Leu)

HGVS:

NC_000016.10:g.75479743G>A
NG_016442.2:g.20699C>T
NM_021615.5:c.86C>TMANE SELECT
NP_067628.1:p.Pro29Leu
LRG_1252t1:c.86C>T
LRG_1252:g.20699C>T
LRG_1252p1:p.Pro29Leu
NC_000016.9:g.75513641G>A
NG_016442.1:g.20286C>T
NM_021615.4:c.86C>T

Protein change:

P29L

Links:

dbSNP: rs1443299574

NCBI 1000 Genomes Browser:

rs1443299574

Molecular consequence:

NM_021615.5:c.86C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782651	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 12, 2017)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000782651

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 12, 2017)

paternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000782651.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 10, 2023

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