ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.1640G>A (p.Arg547His) (rs184173766)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217447 SCV000271933 uncertain significance not specified 2018-08-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg547His var iant in LOXHD1 has been previously reported by our laboratory in one individual with sensorineural hearing loss and has been identified in 0.01% (4/24794) Latin o chromosomes and 0.01% (3/22818) of South Asian chromosomes by the Genome Aggre gation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs184173766). C omputational prediction tools and conservation analysis suggest that the p.Arg54 7His variant may not impact the protein, though this information is not predicti ve enough to rule out pathogenicity. Of note, chimp has this variant, Histidine (His), at this position. In summary, while the clinical significance of the p.Ar g547His variant is uncertain, lack of conservation across species suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BP4, PM2_Supporting.

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