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NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Feb 22, 2021)
Last evaluated:
May 26, 2020
Accession:
VCV000979053.3
Variation ID:
979053
Description:
single nucleotide variant
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NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)

Allele ID
967128
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.2
Genomic location
14: 44963545 (GRCh38) GRCh38 UCSC
14: 45432748 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.44963545T>C
NC_000014.8:g.45432748T>C
NM_001308120.2:c.1124T>C MANE Select NP_001295049.1:p.Leu375Pro missense
... more HGVS
Protein change
L375P
Other names
-
Canonical SPDI
NC_000014.9:44963544:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 617618.0001
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter May 26, 2020 RCV001257976.2
Pathogenic 1 no assertion criteria provided Feb 22, 2021 RCV001293021.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TOGARAM1 - - GRCh38
GRCh37
11 29

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 26, 2020)
criteria provided, single submitter
Method: research
Joubert syndrome
Allele origin: paternal
UW Hindbrain Malformation Research Program,University of Washington
Accession: SCV001442533.1
Submitted: (Nov 05, 2020)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Joubert syndrome
Allele origin: paternal
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001434789.1
Submitted: (Aug 31, 2020)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 22, 2021)
no assertion criteria provided
Method: literature only
JOUBERT SYNDROME 37
Allele origin: germline
OMIM
Accession: SCV001481793.1
Submitted: (Feb 22, 2021)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Latour BL The Journal of clinical investigation 2020 PMID: 32453716

Record last updated Jun 14, 2021