ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.881-9C>G

gnomAD frequency: 0.00003  dbSNP: rs766938558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214959 SCV000271975 uncertain significance not specified 2015-12-24 criteria provided, single submitter clinical testing The c.560-9C>G variant in MITF has not been previously reported in individuals w ith hearing loss or Waardenburg syndrome, but has been identified in 6/64578 Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org). This frequency is not high enough to rule out a pathogenic role. The variant is located in the 3' splice region, and computational tools suggest an impact to splicing. However, this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the c.560-9C>G va riant is uncertain.
GeneDx RCV001596994 SCV001830863 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256126 SCV002536418 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-13 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002485390 SCV002792620 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 2021-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519640 SCV002961000 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-05 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the MITF gene. It does not directly change the encoded amino acid sequence of the MITF protein. This variant is present in population databases (rs766938558, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MITF-related conditions. ClinVar contains an entry for this variant (Variation ID: 228853). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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