Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844633 | SCV002103812 | uncertain significance | not specified | 2022-02-22 | criteria provided, single submitter | clinical testing | Variant summary: SRCAP c.8405C>T (p.Ser2802Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 204562 control chromosomes. 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.8405C>T in individuals affected with Floating-Harbor Syndrome and 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 uncertain significance. |
| Labcorp Genetics |
RCV002034730 | SCV002162236 | uncertain significance | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2802 of the SRCAP protein (p.Ser2802Phe). This variant is present in population databases (rs376510159, gnomAD 0.003%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SRCAP protein function. ClinVar contains an entry for this variant (Variation ID: 1343616). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. |
| Fulgent Genetics, |
RCV002489899 | SCV002782968 | uncertain significance | Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2021-11-06 | criteria provided, single submitter | clinical testing |