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NM_007078.3(LDB3):c.690-4682G>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000532931.1
Variation ID:
532931
Description:
single nucleotide variant
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NM_007078.3(LDB3):c.690-4682G>C

Allele ID
525526
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86687214 (GRCh38) GRCh38 UCSC
10: 88446971 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_385:g.23651G>C
NC_000010.10:g.88446971G>C
NC_000010.11:g.86687214G>C
... more HGVS
Protein change
D164H, D279H
Other names
-
Canonical SPDI
NC_000010.11:86687213:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA211181343
dbSNP: rs1000020884
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 Oct 18, 2017 RCV000639873.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763674.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Oct 18, 2017)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy, ZASP-related
Allele origin: germline
Invitae
Accession: SCV000761456.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces aspartic acid with histidine at codon 164 of the LDB3 protein (p.Asp164His). The aspartic acid residue is moderately conserved and there … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1C
Myofibrillar myopathy, ZASP-related
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894554.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs1000020884...

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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 Oct 08, 2021