ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.607G>T (p.Val203Leu)

gnomAD frequency: 0.00001  dbSNP: rs1300278653
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 RCV001940072 SCV002180730 uncertain significance X-linked myopathy with postural muscle atrophy 2023-05-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1410385). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 187 of the FHL1 protein (p.Val187Leu).

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.