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NM_007078.3(LDB3):c.690-4811C>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 15, 2020
Accession:
VCV000658316.3
Variation ID:
658316
Description:
single nucleotide variant
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NM_007078.3(LDB3):c.690-4811C>T

Allele ID
639190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86687085 (GRCh38) GRCh38 UCSC
10: 88446842 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.88446842C>T
NC_000010.11:g.86687085C>T
NM_007078.3:c.690-4811C>T MANE Select
... more HGVS
Protein change
R236C, R121C
Other names
-
Canonical SPDI
NC_000010.11:86687084:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs750606592
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 15, 2020 RCV000815119.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDB3 - - GRCh38
GRCh37
657 777
LOC110121486 - - - GRCh38 - 93

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 15, 2020)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy, ZASP-related
Allele origin: germline
Invitae
Accession: SCV000955564.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 121 of the LDB3 protein (p.Arg121Cys). The arginine residue is weakly conserved and there is a … (more)

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.

Text-mined citations for rs750606592...

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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 Mar 07, 2021