Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224006 | SCV000281035 | benign | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000242273 | SCV000307408 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000242273 | SCV000519843 | benign | not specified | 2016-03-03 | 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. |
Athena Diagnostics Inc | RCV000242273 | SCV000614186 | likely benign | not specified | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557476 | SCV000640898 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000242273 | SCV001361229 | benign | not specified | 2019-04-22 | criteria provided, single submitter | clinical testing | Variant summary: NEB c.9467T>A (p.Ile3156Asn) results in a non-conservative amino acid change in the encoded protein sequence. One of two in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.011 in 280432 control chromosomes, predominantly at a frequency of 0.021 within the South Asian subpopulation in the gnomAD database, including 8 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 6-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in NEB causing Nemaline Myopathy 2 phenotype (0.0035), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.9467T>A in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as benign. |