Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150916 | SCV000198536 | uncertain significance | not specified | 2014-02-06 | criteria provided, single submitter | clinical testing | The Gly11Val variant in LAMP2 has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen-2, and SIFT) do not provide strong support for or against an impact to the protein. The main dis ease mechanism for the LAMP2 gene is loss of function, which lowers the likeliho od that a missense variant such as Gly11Val is pathogenic. In summary, additiona l information is needed to fully assess the clinical significance of this varian t. |
Invitae | RCV000816392 | SCV000956898 | likely benign | Danon disease | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002260992 | SCV002541762 | uncertain significance | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321624 | SCV002607068 | uncertain significance | Cardiovascular phenotype | 2020-12-03 | criteria provided, single submitter | clinical testing | The p.G11V variant (also known as c.32G>T), located in coding exon 1 of the LAMP2 gene, results from a G to T substitution at nucleotide position 32. The glycine at codon 11 is replaced by valine, an amino acid with dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.004% (1/22028) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.01% (1/10812) of non-Finnish European alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV000816392 | SCV002780248 | uncertain significance | Danon disease | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000157283 | SCV000207014 | uncertain significance | Primary dilated cardiomyopathy | 2014-09-29 | no assertion criteria provided | clinical testing |