ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) (rs727505104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156553 SCV000206272 pathogenic Rare genetic deafness 2014-05-15 criteria provided, single submitter clinical testing The Arg1057X variant in LOXHD1 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. This nonsense var iant leads to a premature termination codon at position 1057, which is predicted to lead to a truncated or absent protein. Loss of function variants in the LOXH D1 gene have been previously reported to segregate in affected individuals from several families with autosomal recessive nonsyndromic hearing loss (Grillet 200 9, Edvardson 2011). In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Invitae RCV000803391 SCV000943260 pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1057*) in the LOXHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LOXHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 179755). Loss-of-function variants in LOXHD1 are known to be pathogenic (PMID: 19732867, 25792669). For these reasons, this variant has been classified as Pathogenic.

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