ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.977A>G (p.Asn326Ser) (rs188528174)

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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 RCV000155732 SCV000205442 likely benign not specified 2016-05-21 criteria provided, single submitter clinical testing p.Asn326Ser in exon 8 of LOXHD1: This variant is not expected to have clinical s ignificance due to frequency data, conservation data, and previous reports. It has been identified in 0.9% (6/648) of East Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs188528174). Th e asparagine (Asn) at position 326 is not conserved in mammals or evolutionary d istant species, with two mammals (pig and armadillo) having a serine (Ser), supp orting that a change at this position may be tolerated. In addition, this varia nt has been previously reported in an individual with hearing loss by our labora tory who had an alternate explanation of the hearing loss identified. Therefor e, this data collectively suggests that the p.Asn326Ser variant is likely benign .

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