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NM_001044.4(SLC6A3):c.1843C>T (p.Arg615Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 31, 2016
Accession:
VCV000470637.1
Variation ID:
470637
Description:
single nucleotide variant
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NM_001044.4(SLC6A3):c.1843C>T (p.Arg615Cys)

Allele ID
455167
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.33
Genomic location
5: 1394755 (GRCh38) GRCh38 UCSC
5: 1394870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.1394870G>A
NC_000005.10:g.1394755G>A
NM_001044.4:c.1843C>T NP_001035.1:p.Arg615Cys missense
NG_015885.1:g.55674C>T
Protein change
R615C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs763131939
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 31, 2016 RCV000542393.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC6A3 - - GRCh38
GRCh38
GRCh37
66 186

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 31, 2016)
criteria provided, single submitter
Method: clinical testing
Infantile Parkinsonism-dystonia
Allele origin: germline
Invitae
Accession: SCV000648424.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 615 of the SLC6A3 protein (p.Arg615Cys). The arginine residue is moderately conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 20, 2019