ClinVar Miner

Submissions for variant NM_004055.5(CAPN5):c.1652C>T (p.Ser551Leu)

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
Ambry Genetics RCV003371177 SCV004086249 uncertain significance Inborn genetic diseases 2023-07-14 criteria provided, single submitter clinical testing The c.1652C>T (p.S551L) alteration is located in exon 12 (coding exon 11) of the CAPN5 gene. This alteration results from a C to T substitution at nucleotide position 1652, causing the serine (S) at amino acid position 551 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778044 SCV004675914 uncertain significance not provided 2022-11-12 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 551 of the CAPN5 protein (p.Ser551Leu). This variant is present in population databases (rs782766470, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CAPN5-related conditions.

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.