Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038551 | SCV000062229 | likely benign | not specified | 2012-09-18 | criteria provided, single submitter | clinical testing | 345+12_345+13dupCT in intron 3 of SOS1: This variant is not expected to be clini cal significant because it is not located in the conserved region of the splicin g consensus sequence. |
Gene |
RCV000159122 | SCV000209066 | benign | RASopathy | 2014-04-07 | criteria provided, single submitter | clinical testing | The variant is found in NOONAN,CARDIOMYOPATHY panel(s). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038551 | SCV001361403 | benign | not specified | 2019-12-09 | criteria provided, single submitter | clinical testing | Variant summary: SOS1 c.345+12_345+13dupCT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00046 in 250972 control chromosomes, predominantly at a frequency of 0.00087 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 29 fold of the estimated maximal expected allele frequency for a pathogenic variant in SOS1 causing Noonan Syndrome and Related Conditions phenotype (3e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
Labcorp Genetics |
RCV000159122 | SCV002408380 | benign | RASopathy | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467552 | SCV002763591 | benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467551 | SCV002763592 | benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |