ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) (rs201994383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213601 SCV000270386 likely benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Arg1800Trp in exon 35 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.2% (13/7914) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201994383). In addition, the arginine (Arg) residue at position 18 00 is not conserved throughout species, with Weddell seal having a tryptophan (T rp). Although this variant has been reported in at least 1 individual with domi nant late onset Fuchs corneal dystrophy (Riazuddin, 2012), the frequency data an d conservation data indicate that it is likely benign.
Counsyl RCV000667422 SCV000791865 uncertain significance Deafness, autosomal recessive 77 2017-05-25 criteria provided, single submitter clinical testing

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