ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.5411C>T (p.Ser1804Leu)

gnomAD frequency: 0.00035  dbSNP: rs149570905
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002952513 SCV003268075 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1804 of the LAMA5 protein (p.Ser1804Leu). This variant is present in population databases (rs149570905, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LAMA5-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003395541 SCV004118897 uncertain significance LAMA5-related disorder 2023-05-02 criteria provided, single submitter clinical testing The LAMA5 c.5411C>T variant is predicted to result in the amino acid substitution p.Ser1804Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of European (Finnish) descent in gnomAD, including one homozygote (http://gnomad.broadinstitute.org/variant/20-60900490-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV005356223 SCV006018386 uncertain significance Inborn genetic diseases 2025-01-29 criteria provided, single submitter clinical testing The c.5411C>T (p.S1804L) alteration is located in exon 41 (coding exon 41) of the LAMA5 gene. This alteration results from a C to T substitution at nucleotide position 5411, causing the serine (S) at amino acid position 1804 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.