Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196579 | SCV001367187 | uncertain significance | Cerebral cavernous malformation | 2018-12-07 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Labcorp Genetics |
RCV001196579 | SCV002281626 | uncertain significance | Cerebral cavernous malformation | 2023-01-21 | criteria provided, single submitter | clinical testing | 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) performed at Invitae indicates that this missense variant is not expected to disrupt KRIT1 protein function. ClinVar contains an entry for this variant (Variation ID: 930716). This variant has not been reported in the literature in individuals affected with KRIT1-related conditions. This variant is present in population databases (rs760437448, gnomAD 0.009%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 701 of the KRIT1 protein (p.Ser701Asn). |
Ambry Genetics | RCV002560223 | SCV003639334 | uncertain significance | Inborn genetic diseases | 2021-09-07 | criteria provided, single submitter | clinical testing | The c.2102G>A (p.S701N) alteration is located in exon 19 (coding exon 15) of the KRIT1 gene. This alteration results from a G to A substitution at nucleotide position 2102, causing the serine (S) at amino acid position 701 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV004792782 | SCV005409277 | uncertain significance | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | BP4 |