ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)

gnomAD frequency: 0.00002  dbSNP: rs745795470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000383770 SCV000434867 likely benign Hirschsprung disease, susceptibility to, 4 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659492 SCV000781309 pathogenic Waardenburg syndrome type 4B 2016-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000659492 SCV003832046 likely pathogenic Waardenburg syndrome type 4B 2023-02-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912427 SCV004735159 pathogenic EDN3-related condition 2024-01-08 criteria provided, single submitter clinical testing The EDN3 c.293C>A variant is predicted to result in the amino acid substitution p.Thr98Lys. This variant was reported in the homozygous or compound heterozygous states in four individuals with Waardenburg syndrome, with depigmentation noted in heterozygotes (Table S4, Pingault. 2010. PubMed ID: 20127975). This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD. A different substitution at this amino acid position (p.Thr98Met) has been reported as pathogenic (Mohseni. 2021. PubMed ID: 33713422; Kapoor. 2012. PubMed ID: 22876130). This variant is interpreted as pathogenic.

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