ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) (rs61733519)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185542 SCV000238421 uncertain significance Deafness, autosomal recessive 77 2015-03-20 no assertion criteria provided research This test identified a heterozygous variant (c.5616C>A;p.Asn1872Lys) in the LOXHD1 gene. This gene has been associated with an autosomal recessive form of hearing loss (DFNB77; MIM: 613079). This variant is considered a variant of unknown significance, as it has not been reported in literature; however, it was seen in 0.2% of individuals in ExAC.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727247 SCV000706948 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000041218 SCV000533485 likely benign not specified 2017-09-14 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041218 SCV000064909 likely benign not specified 2017-09-14 criteria provided, single submitter clinical testing p.Asn1872Lys in exon 36 of LOXHD1: This variant is not expected to have clinical significance because it has been identified in 0.4% (309/73462) of European chr omosomes, including 1 homozygous individual, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs61733519).

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