Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000468021 | SCV000563110 | likely benign | RASopathy | 2023-04-26 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780743 | SCV000918255 | uncertain significance | not specified | 2017-09-18 | criteria provided, single submitter | clinical testing | Variant summary: The SOS1 c.2791+7_2791+10delATTT variant involves the deletion of 4 intronic nucleotides. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/245118 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.000174 (3/17216). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic SOS1 variant (0.00003), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. However, the number of variant alleles detected is too low to exclude pathogenicity. One clinical diagnostic laboratory/reputable database classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |