ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6413G>A (p.Arg2138Gln) (rs148468627)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150959 SCV000198628 benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Arg2138Gln in exon 40 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 3.3% (390/11902) of East Asian c hromosomes by the Genome Aggregation Consortium(gnomAD, http://gnomad.broadinsti tute.org; dbSNP rs148468627).
Illumina Clinical Services Laboratory,Illumina RCV001002773 SCV000408698 uncertain significance Deafness, autosomal recessive 77 2018-01-12 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000150959 SCV000725227 benign not specified 2017-12-12 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV001002773 SCV000992418 uncertain significance Deafness, autosomal recessive 77 criteria provided, single submitter case-control
Invitae RCV000894464 SCV001038450 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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