ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.7228G>C (p.Ala2410Pro)

dbSNP: rs963393003
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
New York Genome Center RCV001839183 SCV002099124 uncertain significance Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2021-04-09 criteria provided, single submitter clinical testing The inherited heterozygous missense variant, c.7228G>C (p.Ala2410Pro) in the SPTBN4 gene has not been reported in affected individuals in the literature. The variant has 0.00003944 allele frequency (6 out of 152,134 heterozygous alleles, no homozygotes) in the gnomAD database indicating it is not a common benign allele in the populations represented in that database. In silico tools provide conflicting predictions about potential pathogenicity of this variant. Based on the available evidence, the inherited c.7228G>C (p.Ala2410Pro) variant in the SPTBN4 gene is reported 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.