Converted during submission to Likely pathogenic.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Pathogenic/Likely pathogenic
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 3 (Most recent: Dec 18, 2017)
- Last evaluated:
- Dec 18, 2017
- Accession:
- VCV000056197.1
- Variation ID:
- 56197
- Description:
- single nucleotide variant
Help
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter)
- Allele ID
- 70836
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p34.2
- Genomic location
- 1: 40089456 (GRCh38) GRCh38 UCSC
- 1: 40555128 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNC_000001.10:g.40555128G>A NC_000001.11:g.40089456G>A NM_000310.3:c.490C>T NP_000301.1:p.Arg164Ter NM_001142604.2:c.181C>T NP_001136076.1:p.Arg61Ter nonsense NM_001363695.2:c.490C>T NP_001350624.1:p.Arg164Ter nonsense NM_000310.3:c.490C>T nonsense LRG_690t1:c.490C>T LRG_690p1:p.Arg164Ter LRG_690:g.13015C>T NG_009192.1:g.13015C>T - Protein change
- R164*
- Other names
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.00001
- The Genome Aggregation Database (gnomAD), exomes 0.00001
- Exome Aggregation Consortium (ExAC) 0.00002
- Links
- dbSNP: rs386833649
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic/Likely pathogenic | 3 | criteria provided, multiple submitters, no conflicts | Dec 18, 2017 | RCV000049608.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | Supporting information
(See all) |
|---|---|---|---|---|
|
Likely pathogenic
(Aug 26, 2014)
|
criteria provided, single submitter
Method: literature only
|
Ceroid lipofuscinosis neuronal 1
(Autosomal recessive inheritance)
Allele origin:
unknown
|
Counsyl
Accession: SCV000220640.1
Submitted: (Mar 11, 2015) |
|
|
Pathogenic
(Dec 18, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Ceroid lipofuscinosis neuronal 1
Allele origin:
inherited
|
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746400.1
Submitted: (Dec 18, 2017) |
|
|
probable-pathogenic
(-)
|
no assertion criteria provided
Method: not provided
|
Ceroid lipofuscinosis neuronal 1
Allele origin:
not provided
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
Accession: SCV000082015.1
Submitted: (May 19, 2013)
Comment:
FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference
|
Comment:
Converted during submission to Likely pathogenic.
|
Citations for this variant
| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. | Kousi M | Human mutation | 2012 | PMID: 21990111 |
| Neuronal ceroid lipofuscinoses: research update. | Wisniewski KE | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2000 | PMID: 11073228 |
| Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. | Waliany S | Human mutation | 2000 | PMID: 10649502 |
| Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. | Das AK | The Journal of clinical investigation | 1998 | PMID: 9664077 |
Record last updated Aug 25, 2019