ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) (rs112618498)

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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, Partners HealthCare Personalized Medicine RCV000041210 SCV000064901 benign not specified 2012-12-10 criteria provided, single submitter clinical testing Arg153Cys in exon 4 of LOXHD1: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (18/1384) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs112618498)
Illumina Clinical Services Laboratory,Illumina RCV000273796 SCV000408785 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 RCV000841281 SCV000983241 likely benign not provided 2018-04-09 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.
Invitae RCV000841281 SCV001058313 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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