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NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 26, 2018
Accession:
VCV000045516.2
Variation ID:
45516
Description:
single nucleotide variant
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NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)

Allele ID
54682
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86716434 (GRCh38) GRCh38 UCSC
10: 88476191 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.86716434C>G
NC_000010.10:g.88476191C>G
LRG_385t1:c.1339C>G
... more HGVS
Protein change
P447A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA136500
dbSNP: rs397517211
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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 Jun 22, 2010 RCV000038724.2
Uncertain significance 1 criteria provided, single submitter Sep 26, 2018 RCV000811808.1
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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
431 524

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 26, 2018)
criteria provided, single submitter
Method: clinical testing
Late-onset distal myopathy Markesbery Griggs type
Allele origin: germline
Invitae
Accession: SCV000952095.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces proline with alanine at codon 1339 of the LDB3 protein (p.Pro447Ala). The proline residue is highly conserved and there is a ... (more)
Uncertain significance
(Jun 22, 2010)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062402.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Pathogenic.

Citations for this variant

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 Jan 18, 2020