ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs200771789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270799 SCV001451560 uncertain significance Autosomal dominant auditory neuropathy 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)
Invitae RCV001556122 SCV002200093 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 119 of the DIAPH3 protein (p.Glu119Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs200771789, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with DIAPH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 989303). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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