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NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) AND Knobloch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)]

NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
Other names:
  • NC_000021.9:g.45510107G>A
  • NG_011903.1:g.109916G>A
  • NG_028278.2:g.58037C>T
  • NM_001379500.1:c.3539G>AMANE SELECT
  • NM_030582.3:c.4070G>A
  • NM_030582.4:c.4070G>A
  • NM_130444.3:c.4775G>A
  • NP_001366429.1:p.Arg1180Gln
  • NP_085059.2:p.Arg1357Gln
  • NP_569711.2:p.Arg1592Gln
  • NC_000021.8:g.46930021G>A
  • NM_001379500.1:c.3539G>A
Protein change:
dbSNP: rs200484625
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001379500.1:c.3539G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030582.4:c.4070G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130444.3:c.4775G>A - missense variant - [Sequence Ontology: SO:0001583]


Knobloch syndrome 1 (KNO1)
MONDO: MONDO:0800167; MedGen: C4551775; OMIM: 267750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV005042762Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlineclinical testing

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

Summary from all submissions

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



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]

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV005042762.1

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


The missense c.3539G>A p.Arg1180Gln variant in COL18A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1180Gln variant is reported with allele frequency of 0.1% in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Benign / Uncertain Significance. The amino acid change p.Arg1180Gln in COL18A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 1180 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024