ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)

dbSNP: rs1057517966
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413197 SCV000491214 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on trans-activation of the TYR promoter, leading to haploinsufficiency (Wang et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20478267, 24194866, 22320238, 26512583, 28777840, 29407415, 29094203, 29531335, 33045145, 27759048, 30394532, 30936914, 33597575)
Laboratory of Human Genetics, Universidade de São Paulo RCV000626399 SCV000678734 likely pathogenic Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000626399 SCV000781749 likely pathogenic Waardenburg syndrome type 2A 2016-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000413197 SCV001248804 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766148 SCV004569529 pathogenic Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg255*) in the MITF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MITF are known to be pathogenic (PMID: 8659547, 20127975). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Waardenburg syndrome (PMID: 20478267, 22320238, 24194866, 29531335, 30394532). ClinVar contains an entry for this variant (Variation ID: 372755). For these reasons, this variant has been classified as Pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721949 SCV000763445 pathogenic Congenital sensorineural hearing impairment 2018-05-15 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004745368 SCV005362314 pathogenic MITF-related disorder 2024-09-04 no assertion criteria provided clinical testing The MITF c.763C>T variant is predicted to result in premature protein termination (p.Arg255*). This variant was reported in multiple individuals with Waardenburg syndrome (Chen et al. 2010. PubMed ID: 20478267; Yang et al. 2013. PubMed ID: 24194866; Kim et al. 2015. PubMed ID: 26512583). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in MITF are expected to be pathogenic. This variant is interpreted as pathogenic.

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