ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) (rs187658135)

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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 RCV000041190 SCV000064881 uncertain significance not specified 2013-03-04 criteria provided, single submitter clinical testing The Arg524His variant has not been reported in individuals affected with hearing loss, but has been identified in 1/3182 (0.03%) European American chromosomes b y the NHLBI Exome Sequencing Project and in 1/1000 (0.1%) chromosomes by the 100 0 Genome Project (; dbSNP rs187658135). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. This variant has also bee n identified in the heterozygous state in one individual with late onset Fuchs c orneal dystrophy (FCD), however hearing status was not reported (Riazuddin 2012) . This variant's association with FCD has not been reported in other affected in dividuals, which, taken together with the presumed autosomal dominant inheritanc e pattern of FCD, does not support a strong correlation between this variant and FCD. In summary, additional data is needed to determine the clinical significan ce of this variant.
Illumina Clinical Services Laboratory,Illumina RCV000293363 SCV000408771 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000667338 SCV000791771 uncertain significance Deafness, autosomal recessive 77 2017-05-23 criteria provided, single submitter clinical testing

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