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NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Sep 24, 2017
Accession:
VCV000536378.1
Variation ID:
536378
Description:
single nucleotide variant
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NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)

Allele ID
524686
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132329259 (GRCh38) GRCh38 UCSC
9: 135204646 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135204646G>A
NC_000009.12:g.132329259G>A
NM_001351528.2:c.2339C>T NP_001338457.1:p.Thr780Ile missense
... more HGVS
Protein change
T780I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA375336278
dbSNP: rs1554821445
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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 Sep 24, 2017 RCV000644815.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SETX - - GRCh38
GRCh37
434 473

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 24, 2017)
criteria provided, single submitter
Method: clinical testing
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Allele origin: germline
Invitae
Accession: SCV000766530.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces threonine with isoleucine at codon 780 of the SETX protein (p.Thr780Ile). The threonine residue is weakly conserved and there is a ... (more)

Citations for this variant

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 Jan 04, 2020