ClinVar Miner

Submissions for variant NM_032793.5(MFSD2A):c.228+8G>A

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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470519 SCV002768659 uncertain significance Microcephaly 15, primary, autosomal recessive 2019-08-28 criteria provided, single submitter clinical testing A heterozygous splice-site variant, NM_032793.4(MFSD2A):c.228+8G>A, has been identified in intron 2 of 13 of the MFSD2A gene. The effect of this variant on the protein sequence is unknown. The nucleotide at this position has low conservation (Phylop UCSC). This nucleotide substitution is predicted to generate a new donor site (HSF) but is not predicted to cause aberrant splicing of exon in in the MFSD2A gene (FruitFly, NetGene2); further testing via RNA studies are required to confirm if splicing is altered. The variant is present in the gnomAD database at a frequency of 0.0009% (2 heterozygotes, 0 homozygotes) but has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with LOW CLINICAL RELEVANCE.

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.