Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001135940.2(MYOT):c.-197+410G>T

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Apr 27, 2004
Accession:
VCV000005838.1
Variation ID:
5838
Description:
single nucleotide variant
Help

NM_001135940.2(MYOT):c.-197+410G>T

Allele ID
20877
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 137870935 (GRCh38) GRCh38 UCSC
5: 137206624 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.137870935G>T
NC_000005.9:g.137206624G>T
NM_001300911.2:c.-62G>T 5 prime UTR
... more HGVS
Protein change
S95I
Other names
-
Canonical SPDI
NC_000005.10:137870934:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA253626
OMIM: 604103.0005
dbSNP: rs121908460
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 27, 2004 RCV000006195.6
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYOT - - GRCh38
GRCh37
- 246
PKD2L2-DT - - - GRCh38 - 233

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 27, 2004)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 3
Allele origin: germline
OMIM
Accession: SCV000026377.5
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutations in myotilin cause myofibrillar myopathy. Selcen D Neurology 2004 PMID: 15111675

Text-mined citations for rs121908460...

Help
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 Jun 14, 2021