ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2863G>C (p.Glu955Gln) (rs548893604)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726391 SCV000344332 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000276847 SCV000710884 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu955Gln var iant in LOXHD1 has not been previously reported in individuals with hearing loss , but it has been identified in 11/21292 of the total chromosomes by the chromos omes by the Exome Aggregation Consortium, which includes several populations (Ex AC, http://exac.broadinstitute.org; dbSNP rs548893604). Although this variant ha s been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Of note, the glutamic acid (Gl u) at amino acid position 955 is not conserved through species, with one mammal (Golden hamster) having a glutamine (Gln) at this position. In summary, while t he clinical significance of this variant is uncertain, these data suggest that i t is more likely to be benign.

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