ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)

gnomAD frequency: 0.00005  dbSNP: rs3180515
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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, Mayo Clinic 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, 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

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