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NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Jun 25, 2019
Accession:
VCV000440209.6
Variation ID:
440209
Description:
single nucleotide variant
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NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)

Allele ID
433872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.3
Genomic location
15: 77035931 (GRCh38) GRCh38 UCSC
15: 77328272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.77035931C>T
NC_000015.9:g.77328272C>T
NG_007526.1:g.45808C>T
... more HGVS
Protein change
A372V, A353V, A363V, A437V
Other names
-
Canonical SPDI
NC_000015.10:77035930:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00010
Links
ClinGen: CA7676167
dbSNP: rs200188483
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 Jan 3, 2017 RCV000508173.4
Uncertain significance 1 criteria provided, single submitter Jun 25, 2019 RCV000766644.2
Uncertain significance 1 criteria provided, single submitter Jun 6, 2019 RCV001212728.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PSTPIP1 - - GRCh38
GRCh37
348 368

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604951.1
Submitted: (Jun 30, 2017)
Evidence details
Uncertain significance
(Jun 25, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616835.2
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Identified in a patient with primary immunodeficiency disease who was also hemizygous for a variant in the CD40LG gene, and identified in a patient with … (more)
Uncertain significance
(Jun 06, 2019)
criteria provided, single submitter
Method: clinical testing
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Allele origin: germline
Invitae
Accession: SCV001384322.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces alanine with valine at codon 372 of the PSTPIP1 protein (p.Ala372Val). The alanine 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
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. Chi ZH Medicine 2018 PMID: 30290665
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Stray-Pedersen A The Journal of allergy and clinical immunology 2017 PMID: 27577878

Text-mined citations for rs200188483...

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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