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NM_001330723.2(SNX27):c.317A>C (p.His106Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 31, 2019
Accession:
VCV000860592.2
Variation ID:
860592
Description:
single nucleotide variant
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NM_001330723.2(SNX27):c.317A>C (p.His106Pro)

Allele ID
822726
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 151638893 (GRCh38) GRCh38 UCSC
1: 151611369 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.151611369A>C
NC_000001.11:g.151638893A>C
NM_001330723.2:c.317A>C MANE Select NP_001317652.1:p.His106Pro missense
NM_030918.6:c.317A>C NP_112180.4:p.His106Pro missense
Protein change
H106P
Other names
-
Canonical SPDI
NC_000001.11:151638892:A:C
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
Uncertain significance 1 criteria provided, single submitter May 31, 2019 RCV001066923.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(May 31, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: germline
Invitae
Accession: SCV001231947.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with proline at codon 106 of the SNX27 protein (p.His106Pro). The histidine residue is weakly conserved and there is a … (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.

Record last updated Oct 08, 2021