ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2244+2T>G (rs1555681351)

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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 RCV000608703 SCV000712658 likely pathogenic Rare genetic deafness 2016-11-14 criteria provided, single submitter clinical testing The c.2244+2T>G variant in LOXHD1 has not been previously reported in individual s with hearing loss or in large population studies. This variant occurs in the i nvariant region (+/- 1,2) of the splice consensus sequence and is predicted to c ause altered splicing leading to an abnormal or absent protein. Loss of functio n of the LOXHD1 gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully esta blish its clinical significance, this variant is likely pathogenic for autosomal recessive nonsyndromic hearing loss.

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