ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3371G>A (p.Arg1124His) (rs762111513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779245 SCV000915805 uncertain significance Deafness, autosomal recessive 77 2017-08-16 criteria provided, single submitter clinical testing The LOXHD1 c.3371G>A (p.Arg1124His) variant has been reported in one study and is found in a compound heterozygous state in two cousins with a second missense variant. Both individuals had nonsyndromic, pre-lingual, bilaterally symmetric profound sensorineural hearing impairment (Lebeko et al. 2016). The p.Arg1124His variant was detected in one of 500 control alleles and is reported at a frequency of 0.000590 in the East Asian population of the Genome Aggregation Database. Based on the evidence, the p.Arg1124His variant is classified as a variant of unknown significance but suspicious for pathogenicity for recessively inherited nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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