ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser) (rs775871086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667681 SCV000792167 uncertain significance Deafness, autosomal recessive 77 2017-06-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222186 SCV000271954 uncertain significance not specified 2017-06-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr1758Ser va riant in LOXHD1 has been previously reported by our laboratory in 1 Ashkenazi Je wish individual with hearing loss; however, a variant affecting the remaining co py of LOXHD1 was not identified. This variant has been identified in 0.25% (21/8 532) of Ashkenazi Jewish chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs775871086); however, this frequency i s not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In s ummary, while the clinical significance of the p.Thr1758Ser variant is uncertain , available data suggest that it is more likely to be benign.

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