ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)

gnomAD frequency: 0.02057  dbSNP: rs114082868
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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 RCV000155369 SCV000205056 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Gly322Gly in Exon 08 of LOXHD1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 6.3% (44/702) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs114082868)."
PreventionGenetics, part of Exact Sciences RCV000155369 SCV000316021 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000155369 SCV000717954 benign not specified 2017-12-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000969699 SCV001117228 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000969699 SCV001144458 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000721 SCV001157766 benign Autosomal recessive nonsyndromic hearing loss 77 2022-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000721 SCV001286851 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001000721 SCV001454088 benign Autosomal recessive nonsyndromic hearing loss 77 2020-09-16 no assertion criteria provided clinical testing

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