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NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 19, 2017)
Last evaluated:
Apr 19, 2017
Accession:
VCV000030196.1
Variation ID:
30196
Description:
single nucleotide variant
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NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)

Allele ID
39152
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q11.2
Genomic location
16: 46662452 (GRCh38) GRCh38 UCSC
16: 46696364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q96QK1:p.Asp620Asn
NC_000016.10:g.46662452C>T
NC_000016.9:g.46696364C>T
... more HGVS
Protein change
D620N
Other names
-
Canonical SPDI
NC_000016.10:46662451:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA259758
UniProtKB: Q96QK1#VAR_066659
OMIM: 601501.0001
dbSNP: rs188286943
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Apr 19, 2017 RCV000023115.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VPS35 - - GRCh38
GRCh37
120 153

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 01, 2012)
no assertion criteria provided
Method: literature only
PARKINSON DISEASE 17
Allele origin: germline
OMIM
Accession: SCV000044406.4
Submitted: (Jan 09, 2015)
Evidence details
Publications
PubMed (5)
Vilarino-Guell, C., Wider, C.,  (more...)
Pathogenic
(Apr 19, 2017)
no assertion criteria provided
Method: literature only
Parkinson disease 17
Allele origin: germline
GeneReviews
Accession: SCV000679666.1
Submitted: (Apr 19, 2017)
Comment:
Autosomal dominant inheritance. About 85% of affected individuals have an affected parent.
Evidence details
Publications
PubMed (1)
BookShelf: NBK447258

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
<i>VPS35</i>-Related Parkinson Disease Deutschländer A - 2017 PMID: 28796472
VPS35 and DNAJC13 disease-causing variants in essential tremor. Rajput A European journal of human genetics : EJHG 2015 PMID: 25118025
VPS35 mutation in Japanese patients with typical Parkinson's disease. Ando M Movement disorders : official journal of the Movement Disorder Society 2012 PMID: 22991136
Frequency of the D620N mutation in VPS35 in Parkinson disease. Kumar KR Archives of neurology 2012 PMID: 22801713
Identification of VPS35 mutations replicated in French families with Parkinson disease. Lesage S Neurology 2012 PMID: 22517097
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Zimprich A American journal of human genetics 2011 PMID: 21763483
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Wider C Parkinsonism & related disorders 2008 PMID: 18342564
Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., and 21 others VPS35 mutations in Parkinson disease. Am. J. Hum. Genet. 89: 162-167, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 347 only, 2011. - - - -

Text-mined citations for rs188286943...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021