ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) (rs188119157)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512767 SCV000608858 likely pathogenic not provided 2017-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778910 SCV000915318 uncertain significance Deafness, autosomal recessive 77 2017-08-11 criteria provided, single submitter clinical testing The LOXHD1 c.2497C>T (p.Arg833Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00002 in the East Asian population of the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041202 SCV000064893 pathogenic Rare genetic deafness 2013-02-12 criteria provided, single submitter clinical testing The Arg833X variant in LOXHD1 has not been previously described by our laborator y or in the literature. This nonsense variant leads to a premature termination c odon at position 833, which is predicted to lead to a truncated or absent protei n. Loss of function variants in the LOXHD1 gene have been previously reported in several individuals with autosomal recessive nonsyndromic hearing loss (Grillet 2009, Edvardson 2011). In summary, this variant meets our criteria to be classi fied as pathogenic (http://pcpgm.partners.org/LMM).

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