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NM_058179.4(PSAT1):c.55C>G (p.His19Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 12, 2021)
Last evaluated:
Jan 13, 2018
Accession:
VCV000367453.4
Variation ID:
367453
Description:
single nucleotide variant
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NM_058179.4(PSAT1):c.55C>G (p.His19Asp)

Allele ID
313450
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.2
Genomic location
9: 78297265 (GRCh38) GRCh38 UCSC
9: 80912181 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.80912181C>G
NC_000009.12:g.78297265C>G
NM_058179.4:c.55C>G MANE Select NP_478059.1:p.His19Asp missense
... more HGVS
Protein change
H19D
Other names
-
Canonical SPDI
NC_000009.12:78297264:C:G
Functional consequence
mutation affecting coding sequence [Sequence Ontology SO:1000054]
Impaired relative to wildtype, but less than all known disease alleles. PMID:32077105 Table S7. [submitted by Dudley Research Group,Pacific Northwest Research Institute]
function_uncertain_variant [Sequence Ontology SO:0002220]
Impaired relative to wildtype, but less than all known disease alleles. PMID:32077105 Table S7. [submitted by Dudley Research Group,Pacific Northwest Research Institute]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10630497
dbSNP: rs1057515669
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 13, 2018 RCV000345093.2
not provided 1 no assertion provided - RCV001254430.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PSAT1 - - GRCh38
GRCh37
314 354

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Phosphoserine aminotransferase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000480846.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
not provided
(-)
no assertion provided
Method: research, in vivo
not provided
Allele origin: unknown, not applicable
Dudley Research Group,Pacific Northwest Research Institute
Accession: SCV001430409.2
Submitted: (Mar 12, 2021)
Evidence details
Publications
PubMed (1)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
function_uncertain_variant
  1. Method not provided
  2. Relative growth in yeast complementation assay. Null and wt values set to 0% and 100%, respectively.
  3. Method citation(s):
  1. Result not provided
  2. 97.456% +/- 2.929 (SE)
Dudley Research Group,Pacific Northwest Research Institute
Accession: SCV001430409.2
Submitted: (Mar 12, 2021)
Evidence details
Publications
PubMed (1)
Comment:
Impaired relative to wildtype, but less than all known disease alleles. PMID:32077105 Table S7.

Citations for this variant

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Title Author Journal Year Link
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1. Sirr A Journal of inherited metabolic disease 2020 PMID: 32077105

Text-mined citations for rs1057515669...

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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 Mar 22, 2021