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NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 19, 2018
Accession:
VCV000665660.1
Variation ID:
665660
Description:
single nucleotide variant
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NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)

Allele ID
626822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151638998 (GRCh38) GRCh38 UCSC
1: 151611474 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151611474A>T
NC_000001.11:g.151638998A>T
NM_001330723.2:c.422A>T MANE Select NP_001317652.1:p.Asp141Val missense
NM_030918.6:c.422A>T NP_112180.4:p.Asp141Val missense
Protein change
D141V
Other names
-
Canonical SPDI
NC_000001.11:151638997:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs1300183081
VarSome
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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 Nov 19, 2018 RCV000823983.1
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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
Uncertain significance
(Nov 19, 2018)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV000964858.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces aspartic acid with valine at codon 141 of the SNX27 protein (p.Asp141Val). The aspartic acid residue is highly conserved and there … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1300183081...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021