ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)

dbSNP: rs1559751245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756113 SCV001988388 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in siblings with nonsyndromic hearing loss and their unaffected mother in the published literature (Zhang et al., 2018); This variant is associated with the following publications: (PMID: 29484430, 30394532)
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004698346 SCV005199929 pathogenic Waardenburg syndrome type 2A 2024-08-20 criteria provided, single submitter research An autosomal dominnat, pathogenic variant based on Deafness Variation Database, ClinVar and PMID: 29484430. It was detected in an individual with WS2 and profound deafness.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721954 SCV000763161 likely pathogenic Tietz syndrome; Waardenburg syndrome type 2A 2018-05-15 no assertion criteria provided research

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