Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037424 | SCV000061081 | likely benign | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | p.Gly221Arg in LAMP2: This variant is not expected to have clinical significance because it has been identified in 0.2% (84/47999) of European chromosomes, incl uding 30 males, by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org/; dbSNP rs145169006). |
Gene |
RCV000037424 | SCV000207890 | likely benign | not specified | 2017-12-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000465775 | SCV000560067 | likely benign | Danon disease | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000755557 | SCV000604090 | benign | not provided | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617835 | SCV000736900 | benign | Cardiovascular phenotype | 2017-06-15 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000037424 | SCV000740589 | likely benign | not specified | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718230 | SCV000849092 | benign | History of neurodevelopmental disorder | 2017-06-15 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Center for Advanced Laboratory Medicine, |
RCV000853049 | SCV000995807 | benign | Cardiomyopathy | 2019-05-14 | criteria provided, single submitter | clinical testing | |
Human Genetics Laboratory, |
RCV001089470 | SCV000996528 | uncertain significance | Intellectual disability | 2020-04-07 | criteria provided, single submitter | research | |
Mendelics | RCV000465775 | SCV001142004 | likely benign | Danon disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000465775 | SCV001330759 | benign | Danon disease | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Integrated Genetics/Laboratory Corporation of America | RCV000037424 | SCV001362570 | benign | not specified | 2019-03-04 | criteria provided, single submitter | clinical testing | Variant summary: LAMP2 c.661G>A (p.Gly221Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0015 in 200310 control chromosomes in the gnomAD database, including 1 homozygote and 95 hemizygotes. The observed variant frequency is approximately 120 fold of the estimated maximal expected allele frequency for a pathogenic variant in LAMP2 causing Cardiomyopathy phenotype (1.3e-05), strongly suggesting that the variant is benign. The variant c.661G>A has been reported in the literature in patients with dilated (DCM) or hypertrophic (HCM) cardiomyopathies, however without evidence for causality (e.g. Mook 2013, Cecconi 2016, Mademont-Soler 2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (2x)/likely benign(4x). Based on the evidence outlined above, the variant was classified as benign. |
Diagnostic Laboratory, |
RCV000465775 | SCV000734734 | likely benign | Danon disease | no assertion criteria provided | clinical testing |