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NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Dec 31, 2015
Accession:
VCV000228814.1
Variation ID:
228814
Description:
single nucleotide variant
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NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp)

Allele ID
230965
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q21.1
Genomic location
18: 46579680 (GRCh38) GRCh38 UCSC
18: 44159643 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.9:g.44159643G>A
NC_000018.10:g.46579680G>A
NM_144612.6:c.1759C>T NP_653213.6:p.Arg587Trp missense
... more HGVS
Protein change
R587W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00020
Links
ClinGen: CA10577085
dbSNP: rs540100675
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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 Dec 31, 2015 RCV000221110.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOXHD1 - - GRCh38
GRCh37
514 554

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000271934.2
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Arg587Trp variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 1/198 Asian chromosomes by ... (more)

Citations for this variant

Title Author Journal Year Link
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Riazuddin SA American journal of human genetics 2012 PMID: 22341973

Record last updated Oct 27, 2019