Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474433 | SCV000548785 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV002222515 | SCV002010643 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002222515 | SCV002499936 | uncertain significance | not provided | 2021-10-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This substitution is predicted to be within the transmembrane segment S2 of the third homologous domain; Has not been previously published as pathogenic or benign to our knowledge |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003993970 | SCV004813805 | uncertain significance | not specified | 2024-02-07 | criteria provided, single submitter | clinical testing | Variant summary: SCN1A c.3752T>C (p.Met1251Thr) results in a non-conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.2e-06 in 1609902 control chromosomes, predominantly at a frequency of 8e-05 within the African or African-American subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3752T>C in individuals affected with SCN1A-Related Seizure Disorder and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 408940). Based on the evidence outlined above, the variant was classified as uncertain significance. |