ClinVar Miner

Submissions for variant NM_014241.4(HACD1):c.373_375+2del

dbSNP: rs1426156076
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048629 SCV002307006 pathogenic not provided 2022-08-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1515844). This variant has been observed in individuals with clinical features of congenital myopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 2 (c.373_375+2del) of the HACD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HACD1 are known to be pathogenic (PMID: 23933735).
OMIM RCV002271315 SCV002553210 pathogenic Congenital myopathy 11 2024-07-16 no assertion criteria provided literature only

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.