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SCN3A, LEU247PRO

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 18, 2018)
Last evaluated:
Oct 14, 2019
Accession:
VCV000522566.2
Variation ID:
522566
Description:
variation
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SCN3A, LEU247PRO

Allele ID
513178
Variant type
Variation
Variant length
-
Cytogenetic location
2q24.3
Genomic location
-
HGVS
-
Protein change
L247P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 182391.0004
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 14, 2019 RCV000625711.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN3A - - GRCh38
GRCh37
263 296

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 14, 2019)
no assertion criteria provided
Method: literature only
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
Allele origin: germline
OMIM
Accession: SCV000746211.2
Submitted: (Apr 18, 2018)
Evidence details
Publications
Lamar, T., Vanoye, C. G., Calhoun,  (more...)

Citations for this variant

Title Author Journal Year Link
SCN3A deficiency associated with increased seizure susceptibility. Lamar T Neurobiology of disease 2017 PMID: 28235671
Lamar, T., Vanoye, C. G., Calhoun, J., Wong, J. C., Dutton, S. B. B., Jorge, B. S., Velinov, M., Escayg, A., Kearney, J. A. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol. Dis. 102: 38-48, 2017. - - - -

Record last updated Jan 12, 2020