ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003029418 SCV003326648 likely pathogenic Neuronal ceroid lipofuscinosis 7 2023-10-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MFSD8 mRNA. The next in-frame methionine is located at codon 46. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with MFSD8-related conditions (PMID: 19177532, 32037395). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2108239). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.