Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV002468501 | SCV002764433 | uncertain significance | Lipase deficiency, combined | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003896202 | SCV004709068 | uncertain significance | LMF1-related disorder | 2023-12-12 | criteria provided, single submitter | clinical testing | The LMF1 c.479C>T variant is predicted to result in the amino acid substitution p.Ser160Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004067568 | SCV005028613 | uncertain significance | Cardiovascular phenotype | 2023-11-08 | criteria provided, single submitter | clinical testing | The p.S160F variant (also known as c.479C>T), located in coding exon 2 of the LMF1 gene, results from a C to T substitution at nucleotide position 479. The serine at codon 160 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |