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NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Jan 1, 2018
Accession:
VCV000207470.2
Variation ID:
207470
Description:
single nucleotide variant
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NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)

Allele ID
204020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.3
Genomic location
X: 47575136 (GRCh38) GRCh38 UCSC
X: 47434535 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.47434535G>A
NC_000023.11:g.47575136G>A
NM_006950.3:c.1297C>T NP_008881.2:p.His433Tyr missense
... more HGVS
Protein change
H433Y
Other names
p.H433Y:CAT>TAT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00055
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00057
The Genome Aggregation Database (gnomAD), exomes 0.00124
The Genome Aggregation Database (gnomAD) 0.00009
Exome Aggregation Consortium (ExAC) 0.00216
1000 Genomes Project 0.00026
Links
dbSNP: rs41298474
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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 Jan 14, 2015 RCV000189653.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 1, 2018 RCV000558124.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SYN1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
106 250

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: clinical testing
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
Allele origin: unknown
NeuroMeGen,Hospital Clinico Santiago de Compostela
Accession: SCV000693799.1
Submitted: (Mar 07, 2018)
Evidence details
Benign
(Sep 30, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
Allele origin: germline
Invitae
Accession: SCV000639937.2
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jan 14, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000243299.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.His433Tyr (CAT>TAT): c.1297 C>T in exon 10 of the SYN1 gene (NM_133499.2) A variant of unknown significance has been identified in the SYN1 gene. The ... (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 Aug 30, 2019