ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)

gnomAD frequency: 0.00028  dbSNP: rs114557260
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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 RCV000218382 SCV000270384 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Val1608Val in Exon 31 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (11/2752) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs114557260).
Illumina Laboratory Services, Illumina RCV000366606 SCV000408718 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 RCV000905143 SCV001049710 benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000366606 SCV001455676 likely benign Autosomal recessive nonsyndromic hearing loss 77 2020-01-07 no assertion criteria provided clinical testing

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