ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4147A>G (p.Thr1383Ala) (rs1182325987)

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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 RCV000611648 SCV000712206 likely benign not specified 2016-06-20 criteria provided, single submitter clinical testing p.Thr1383Ala in exon 27 of LOXHD1: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, three mammals (opossum, Tasmanian devil, wallaby) have an alanine (Ala) at this position despite high nearby amino acid conservation. In addition, compu tational prediction tools do not suggest a high likelihood of impact to the prot ein.

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