ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)

gnomAD frequency: 0.05881  dbSNP: rs10163657
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Total submissions: 8
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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 RCV000041188 SCV000064879 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val363Ile in Exon 08 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 9.1% (231/2532) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs10163657).
PreventionGenetics, part of Exact Sciences RCV000041188 SCV000315999 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041188 SCV000717080 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV001125425 SCV001284492 likely benign Autosomal recessive nonsyndromic hearing loss 77 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521392 SCV001730730 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001125425 SCV001761376 benign Autosomal recessive nonsyndromic hearing loss 77 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001521392 SCV005215398 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001125425 SCV001454087 benign Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided clinical testing

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