ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.1810-6C>G

dbSNP: rs199804946
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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, Mass General Brigham Personalized Medicine RCV000041193 SCV000064884 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The 1810-6C>G variant in LOXHD1 has not been reported in individuals affected wi th hearing loss, but has been identified in 0.3% (1/339) of chromosomes by the C linSeq Project (dbSNP rs199804946), though this frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. Computational tools do not su ggest an impact to splicing; however, this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of this variant.
Illumina Laboratory Services, Illumina RCV001127407 SCV001286717 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054806 SCV002455402 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001127407 SCV001459825 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2019-10-28 no assertion criteria provided clinical testing

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