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NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 15, 2019)
Last evaluated:
Feb 19, 2017
Accession:
VCV000866425.1
Variation ID:
866425
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)

Allele ID
856827
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1520681 (GRCh38) GRCh38 UCSC
16: 1570682 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1520681T>C
NC_000016.9:g.1570682T>C
NM_014714.4:c.3581A>G MANE Select NP_055529.2:p.Gln1194Arg missense
NG_032783.1:g.96428A>G
Protein change
Q1194R
Other names
-
Canonical SPDI
NC_000016.10:1520680:T:C
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 Feb 19, 2017 RCV001074433.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFT140 - - GRCh38
GRCh37
533 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 19, 2017)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240017.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
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 May 03, 2020