ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)

dbSNP: rs35088381
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Total submissions: 8
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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 RCV000041195 SCV000064886 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly632Cys in Exon 14 of LOXHD1: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (33/2532) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs35088381).
GeneDx RCV000041195 SCV000718728 benign not specified 2017-12-28 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.
Athena Diagnostics RCV000992279 SCV001144444 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001126985 SCV001286246 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2018-01-13 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001126985 SCV001473063 benign Autosomal recessive nonsyndromic hearing loss 77 2023-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992279 SCV001717025 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001126985 SCV001761373 benign Autosomal recessive nonsyndromic hearing loss 77 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001126985 SCV001464141 benign Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided clinical testing

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