ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)

dbSNP: rs2066265350
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255344 SCV001431674 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.629A>G, p.(Asn210Ser) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was DNV.The variants does not (fully) explain the NDD in this individual
Institute of Human Genetics, University of Leipzig Medical Center RCV001262546 SCV001440464 uncertain significance Waardenburg syndrome type 2A 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568750 SCV003215695 uncertain significance Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2022-06-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MITF-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 210 of the MITF protein (p.Asn210Ser). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 977608). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Asn210Lys amino acid residue in MITF. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10851256). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.