ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)

gnomAD frequency: 0.00002  dbSNP: rs201437745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659498 SCV000781316 uncertain significance Waardenburg syndrome type 4A 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003153794 SCV003842907 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003153794 SCV004553910 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EDNRB protein function. ClinVar contains an entry for this variant (Variation ID: 547295). This variant has not been reported in the literature in individuals affected with EDNRB-related conditions. This variant is present in population databases (rs201437745, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 325 of the EDNRB protein (p.Val325Ile).

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