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NM_000086.2(CLN3):c.1203T>A (p.Ser401Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 30, 2018)
Last evaluated:
Jul 18, 2016
Accession:
VCV000588067.1
Variation ID:
588067
Description:
single nucleotide variant
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NM_000086.2(CLN3):c.1203T>A (p.Ser401Arg)

Allele ID
580070
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p12.1
Genomic location
16: 28477630 (GRCh38) GRCh38 UCSC
16: 28488951 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.28477630A>T
NC_000016.9:g.28488951A>T
NM_001286109.2:c.969T>A NP_001273038.1:p.Ser323Arg missense
... more HGVS
Protein change
S401R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs764585366
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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 18, 2016 RCV000716423.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN3 - - GRCh38
GRCh37
359 412

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 18, 2016)
criteria provided, single submitter
Method: clinical testing
Seizures
Allele origin: germline
Ambry Genetics
Accession: SCV000847264.1
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Conflicting evidence

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 Jan 04, 2020