Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001931358 | SCV002205901 | uncertain significance | not provided | 2021-07-26 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRKCSH-related conditions. This variant is present in population databases (rs370840119, ExAC 0.007%). This sequence change replaces glutamic acid with aspartic acid at codon 181 of the PRKCSH protein (p.Glu181Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. |
Fulgent Genetics, |
RCV002491972 | SCV002789692 | likely benign | Polycystic liver disease 1 | 2024-03-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001931358 | SCV003806137 | uncertain significance | not provided | 2022-08-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004041930 | SCV005011688 | uncertain significance | Inborn genetic diseases | 2023-01-26 | criteria provided, single submitter | clinical testing | The c.543G>C (p.E181D) alteration is located in exon 7 (coding exon 6) of the PRKCSH gene. This alteration results from a G to C substitution at nucleotide position 543, causing the glutamic acid (E) at amino acid position 181 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |