ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7298C>T (p.Pro2433Leu)

gnomAD frequency: 0.00005  dbSNP: rs766759529
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 RCV001903812 SCV002173623 uncertain significance not provided 2022-05-27 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. This variant is present in population databases (rs766759529, gnomAD 0.05%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2433 of the LAMA1 protein (p.Pro2433Leu).
Ambry Genetics RCV004042660 SCV004895550 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.7298C>T (p.P2433L) alteration is located in exon 51 (coding exon 51) of the LAMA1 gene. This alteration results from a C to T substitution at nucleotide position 7298, causing the proline (P) at amino acid position 2433 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.