ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys)

gnomAD frequency: 0.00003  dbSNP: rs535637788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325848 SCV000408766 uncertain significance Autosomal recessive nonsyndromic hearing loss 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825362 SCV000966657 uncertain significance not specified 2018-08-22 criteria provided, single submitter clinical testing The p.Glu610Lys variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 0.019% (2/10240) of East Asian c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org). This variant has also been reported in ClinVar (Variation ID 326867). Computational prediction tools and conservation analysis suggest that this vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu610Ly s variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_Supporting.
Breakthrough Genomics, Breakthrough Genomics RCV004694398 SCV005193335 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000325848 SCV001459824 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2019-12-30 no assertion criteria provided clinical testing

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