ClinVar Miner

Submissions for variant NM_000248.3(MITF):c.763C>T (p.Arg255Ter) (rs1057517966)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000626399 SCV000781749 likely pathogenic Waardenburg syndrome type 2A 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000413197 SCV000491214 pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing The R255X variant in the MITF gene has been reported previously in the heterozygous state in multiple unrelated individuals with Waardenburg syndrome type 2 (Yang T et al., 2013; Yang S et al., 2013; Kim et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R255X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R255X as a pathogenic variant.
Kasturba Medical College,Manipal University RCV000721949 SCV000763445 pathogenic Congenital sensorineural hearing impairment 2018-05-15 no assertion criteria provided research
Laboratory of Human Genetics,Universidade de São Paulo RCV000626399 SCV000678734 likely pathogenic Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research

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