ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) (rs1555067667)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668651 SCV000793285 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000812299 SCV000952609 likely pathogenic not provided 2019-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 397 of the MYO7A protein (p.Ala397Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals and families affected with MYO7A-related conditions (PMID: 9382091, 20497194). ClinVar contains an entry for this variant (Variation ID: 553245). Experimental studies have shown that this missense change has a deleterious effect on protein function (PMID: 18700726). This variant disrupts the p.Ala397 amino acid residue in MYO7A. Other variants that disrupt this residue have been observed in affected individuals (PMID: 28944237), which suggests that this may be a clinically significant amino acid residue. 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.
Blueprint Genetics RCV001075552 SCV001241178 pathogenic Retinal dystrophy 2018-12-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000812299 SCV001247930 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing

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.