ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)

gnomAD frequency: 0.00001  dbSNP: rs780560784
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605343 SCV000712142 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Gly1849Arg variant in LOXHD1 has not been previously reported in individua ls with hearing loss. This variant has been identified in 1/7912 South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs780560784); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, the clinical significance o f the p.Gly1849Arg variant is uncertain.
3billion RCV001275163 SCV002058798 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000013, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.872, 3CNET: 0.919, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital RCV004721472 SCV005328483 pathogenic not provided 2024-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275163 SCV001460008 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided clinical testing

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