ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.3673A>G (p.Ser1225Gly) (rs370149278)

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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 RCV000150974 SCV000198651 uncertain significance not specified 2013-06-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser1225Gly vari ant in LOXHD1 has not been reported in individuals with hearing loss, but has be en identified in 0.6% (9/1384) of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/). Although this variant has been seen in the general population, its frequency is not high enough to rul e out a pathogenic role. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f this variant cannot be determined with certainty; however, based upon presence in the general population in the absence of any data to support a role in heari ng loss, we would lean towards a more likely benign role.
Illumina Clinical Services Laboratory,Illumina RCV000391936 SCV000408733 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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