Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587683 | SCV000697765 | uncertain significance | not provided | 2016-08-12 | criteria provided, single submitter | clinical testing | Variant summary: The SCN1A c.3502G>A (p.Val1168Ile) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 3/121350 control chromosomes at a frequency of 0.0000247, which is approximately 1.4 times the estimated maximal expected allele frequency of a pathogenic SCN1A variant (0.0000179), suggesting this variant is likely a benign polymorphism. However, due to the small number of carriers in this cohort, this information is not strong enough to classify this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a VUS- possibly benign variant. |
Invitae | RCV002530921 | SCV003516225 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-01 | criteria provided, single submitter | clinical testing |