NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) AND Deafness, autosomal recessive 77

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000477928.4

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)]

NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)

Gene:
LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
HGVS:
  • NC_000018.10:g.46592017G>A
  • NG_016646.2:g.70017C>T
  • NM_001384474.1:c.1570C>TMANE SELECT
  • NM_144612.6:c.1570C>T
  • NM_144612.7:c.1570C>T
  • NP_001371403.1:p.Arg524Cys
  • NP_653213.6:p.Arg524Cys
  • NP_653213.6:p.Arg524Cys
  • NC_000018.9:g.44171980G>A
  • NC_000018.9:g.44171980G>A
Protein change:
R524C
Links:
dbSNP: rs192376005
NCBI 1000 Genomes Browser:
rs192376005
Molecular consequence:
  • NM_001384474.1:c.1570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144612.6:c.1570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144612.7:c.1570C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 77 (DFNB77)
Identifiers:
MONDO: MONDO:0013119; MedGen: C2746083; Orphanet: 90636; OMIM: 613079

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536796Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedUncertain significance
(Sep 30, 2015)
paternalresearch

PubMed (1)
[See all records that cite this PMID]

SCV000790138Counsylcriteria provided, single submitter
Uncertain significance
(Mar 6, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001283371Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link,

SCV001463934Natera, Inc.no assertion criteria providedLikely benign
(Jan 8, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedpaternalyesnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.

Riazuddin SA, Parker DS, McGlumphy EJ, Oh EC, Iliff BW, Schmedt T, Jurkunas U, Schleif R, Katsanis N, Gottsch JD.

Am J Hum Genet. 2012 Mar 9;90(3):533-9. doi: 10.1016/j.ajhg.2012.01.013. Epub 2012 Feb 16.

PubMed [citation]
PMID:
22341973
PMCID:
PMC3309196

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001283371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001463934.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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