ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
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
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.
Invitae RCV000444913 SCV001023608 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000477928 SCV001283371 uncertain significance Deafness, autosomal recessive 77 2017-04-27 criteria provided, single submitter clinical testing 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.
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

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