ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.765G>A (p.Glu255=)

gnomAD frequency: 0.00058  dbSNP: rs79273904
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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 RCV000150662 SCV000198008 benign not specified 2015-11-03 criteria provided, single submitter clinical testing p.Glu234Glu in Exon 07 of ESRRB: 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 1.7% (148/8644) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs79273904).
Illumina Laboratory Services, Illumina RCV000287597 SCV000388899 uncertain significance Autosomal recessive nonsyndromic hearing loss 35 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.
GeneDx RCV000903153 SCV000721653 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903153 SCV001047608 benign not provided 2024-12-26 criteria provided, single submitter clinical testing

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