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NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys) AND Parkinson disease, late-onset

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 2008
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:
RCV000006451.2

Allele description

NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys)

Genes:
SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
MGC32805:uncharacterized LOC153163 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.2
Genomic location:
Preferred name:
NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys)
HGVS:
  • NC_000005.10:g.122450708C>T
  • NG_011486.1:g.143584C>T
  • NM_005460.3:c.1861C>T
  • NP_005451.2:p.Arg621Cys
  • NC_000005.9:g.121786403C>T
  • NM_005460.2:c.1861C>T
  • NR_131761.1:n.2273C>T
  • Q9Y6H5:p.Arg621Cys
Protein change:
R621C; ARG621CYS
Links:
UniProtKB: Q9Y6H5#VAR_025667; OMIM: 603779.0001; dbSNP: rs28937592
NCBI 1000 Genomes Browser:
rs28937592
Molecular consequence:
  • NM_005460.3:c.1861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_131761.1:n.2273C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Parkinson disease, late-onset (PD)
Synonyms:
Parkinson's disease; PARKINSON DISEASE, AGE OF ONSET, MODIFIER; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
Identifiers:
MedGen: C3160718; OMIM: 168600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026634OMIM
no assertion criteria provided
Uncertain significance
(Mar 21, 2008) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.

Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R.

Hum Mol Genet. 2003 Jun 1;12(11):1223-31.

PubMed [citation]
PMID:
12761037

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.

Myhre R, Klungland H, Farrer MJ, Aasly JO.

BMC Med Genet. 2008 Mar 21;9:19. doi: 10.1186/1471-2350-9-19.

PubMed [citation]
PMID:
18366718
PMCID:
PMC2329608

Details of each submission

From OMIM, SCV000026634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant, formerly titled PARKINSON DISEASE, has been reclassified based on the findings of Myhre et al. (2008).

In 2 unrelated German males with symptoms of Parkinson disease (PD; 168600), Marx et al. (2003) detected a 1861C-T transition in exon 9 of the SNCAIP gene, resulting in an arg621-to-cys (R621C) substitution at a conserved residue. Both patients shared the same rare alleles in 5 flanking microsatellite markers. Marx et al. (2003) speculated that the R621C mutation in synphilin-1 prevents its sequestration into intracytoplasmic aggregations and leads to an increased accumulation of toxic intermediates by defective ubiquitination and/or proteasomal inhibition. The first patient presented at 66 years of age with a 3-year history of progressive slowing of movement and painful legs. The second patient recognized difficulties in movements of his left arm at 69 years of age.

Myhre et al. (2008) identified the R621C variant in 4 of 300 Norwegian patients with Parkinson disease and in 10 of 412 controls, suggesting that it is a polymorphism and not associated with susceptibility to PD.

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

Last Updated: Mar 31, 2019