ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) (rs192376005)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444913 SCV000511316 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Counsyl RCV000477928 SCV000790138 uncertain significance Deafness, autosomal recessive 77 2017-03-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000150987 SCV000297374 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477928 SCV000536796 uncertain significance Deafness, autosomal recessive 77 2015-09-30 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150987 SCV000858613 likely benign not specified 2017-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000444913 SCV000977409 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150987 SCV000198674 benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Arg524Cys in exon 12 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.5% (44/8578) of Ashkenazi Jewis h chromosomes and 0.4% (291/73944) of European chromosomes including 1 homozygot e by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs192376005}. This variant has also been reported in seven members of one fam ily with autosomal dominant, late onset Fuchs corneal dystrophy (FCD); however, one affected family member did not carry this variant and functional studies wer e not strongly supportive of pathogenicity (Riazzudin 2012). In summary, this va riant is benign based on its frequency in the general population and the evidenc e against an association with FCD, primarily the non-segregation.

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