ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270799 SCV001451560 uncertain significance Auditory neuropathy, autosomal dominant, 1 2019-04-30 criteria provided, single submitter clinical testing The DIAPH3 c.357G>C (p.Glu119Asp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Glu119Asp variant is classified as a variant of uncertain significance for auditory neuropathy.
GeneDx RCV001556122 SCV001777644 uncertain significance not provided 2021-04-27 criteria provided, single submitter clinical testing Identified in a patient and parent with progressive sensorineural hearing loss in published literature, however, the patient had multiple anomalies suggesting a previously undescribed skeletal dysplasia syndrome and variants of uncertain significance in other genes (Stinson et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32426895)

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