ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)

dbSNP: rs147682682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003411560 SCV004115790 likely pathogenic MITF-related disorder 2022-11-03 criteria provided, single submitter clinical testing The MITF c.676G>T variant is predicted to result in premature protein termination (p.Glu226*). This variant was reported in an individual with Waardenburg syndrome 2A (Somashekar et al. 2019. PubMed ID: 30394532, alt nomenclature NM_198159.2:c.979G>T (p.Glu327*)). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in MITF are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721951 SCV000762474 pathogenic Waardenburg syndrome type 2A 2018-05-15 no assertion criteria provided research

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