ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5171A>G (p.Asn1724Ser) (rs192929296)

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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 RCV000616736 SCV000712032 uncertain significance not specified 2016-04-21 criteria provided, single submitter clinical testing The p.Asn1724Ser variant in LOXHD1 has not been previously reported in individua ls with hearing loss, but it has been identified in 1/128 Mexican ancestry chrom osomes by the 1000 Genomes Project (dbSNP rs192929296). Although this variant ha s been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Asn1724Ser variant may not impact the protein, though this in formation is not predictive enough to rule out pathogenicity. In summary, the cl inical significance of the p.Asn1724Ser variant is uncertain.

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