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NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 7, 2018)
Last evaluated:
Aug 7, 2018
Accession:
VCV000587417.2
Variation ID:
587417
Description:
single nucleotide variant
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NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)

Allele ID
578538
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 19661260 (GRCh38) GRCh38 UCSC
17: 19564573 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.19564573G>T
NC_000017.11:g.19661260G>T
NG_007095.2:g.17510G>T
... more HGVS
Protein change
R311L, R118L
Other names
-
Canonical SPDI
NC_000017.11:19661259:G:T
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 Aug 7, 2018 RCV000714555.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH3A2 - - GRCh38
GRCh37
317 431

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Sjögren-Larsson syndrome
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845256.1
Submitted: (Aug 07, 2018)
Evidence details

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 24, 2021