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NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 8, 2019
Accession:
VCV000947628.2
Variation ID:
947628
Description:
2bp microsatellite
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NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)

Allele ID
921634
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
1q21.3
Genomic location
1: 151658314-151658315 (GRCh38) GRCh38 UCSC
1: 151630790-151630791 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151630790AG[3]
NC_000001.11:g.151658314AG[3]
NM_001330723.2:c.629_630del MANE Select NP_001317652.1:p.Glu210fs frameshift
NM_030918.6:c.629_630del NP_112180.4:p.Glu210fs frameshift
Protein change
E210fs
Other names
-
Canonical SPDI
NC_000001.11:151658313:AGAGAGAG:AGAGAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 8, 2019 RCV001218740.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SNX27 - - GRCh38
GRCh37
185 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 08, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV001390638.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Glu210Valfs*44) in the SNX27 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration. Damseh N Neurogenetics 2015 PMID: 25894286

Record last updated Oct 08, 2021