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NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000217662.3
Variation ID:
217662
Description:
single nucleotide variant
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NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)

Allele ID
214306
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 136434127 (GRCh38) GRCh38 UCSC
9: 139328579 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.136434127G>A
NC_000009.11:g.139328579G>A
NM_019892.6:c.944C>T MANE Select NP_063945.2:p.Pro315Leu missense
... more HGVS
Protein change
P315L
Other names
-
Canonical SPDI
NC_000009.12:136434126:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00006
Links
ClinGen: CA277720
dbSNP: rs754637179
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 11, 2020 RCV000201594.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INPP5E - - GRCh38
GRCh37
380 449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 1
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256423.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Allele origin: germline
Invitae
Accession: SCV000758383.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces proline with leucine at codon 315 of the INPP5E protein (p.Pro315Leu). The proline residue is highly 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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Title Author Journal Year Link
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Stone EM Ophthalmology 2017 PMID: 28559085
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869

Text-mined citations for rs754637179...

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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 Apr 08, 2021