ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5224G>A (p.Glu1742Lys) (rs200242497)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041217 SCV000064908 uncertain significance not specified 2013-10-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu1742Lys vari ant in LOXHD1 has been reported in one individual with Fuchs' corneal dystrophy (Riazuddin 2012). It has been identified by our laboratory in the heterozygous state in one individual with congenital SNHL who is compound heterozygous for t wo pathogenic variants in another gene and in two unaffected relatives (LMM unpu blished data). This variant has also been identified in 0.1% (4/3182) of Europea n American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS/; dbSNP rs200242497), but this frequency is not high enough to ru le out a pathogenic role. Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant cannot be determined with certainty; however, based upon the arg uments described above, we lean towards a more likely benign role.
Counsyl RCV000665817 SCV000789996 uncertain significance Deafness, autosomal recessive 77 2017-03-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728156 SCV000855696 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing

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