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NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000294370.4
Variation ID:
294370
Description:
single nucleotide variant
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NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)

Allele ID
278121
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 18875465 (GRCh38) GRCh38 UCSC
1: 19201959 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.19201959C>G
NC_000001.11:g.18875465C>G
NG_012283.1:g.32335G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:18875464:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00029
Links
ClinGen: CA646925
dbSNP: rs146222625
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 Dec 31, 2019 RCV000870521.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH4A1 - - GRCh38
GRCh37
164 196
LOC120893116 - - - GRCh38 - 18

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of pyrroline-5-carboxylate reductase
Allele origin: germline
Invitae
Accession: SCV001012024.2
Submitted: (Jan 29, 2020)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of pyrroline-5-carboxylate reductase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000352061.3
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)

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 rs146222625...

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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 Nov 27, 2021