Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003555987 | SCV004297690 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Pro617 amino acid residue in SCNN1B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21525970, 25210634). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCNN1B function (PMID: 9626162). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 617 of the SCNN1B protein (p.Pro617Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant Liddle syndrome (PMID: 9626162, 27896928). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Pro615Ser. ClinVar contains an entry for this variant (Variation ID: 8836). 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: "Probably Damaging"; Align-GVGD: "Class C0"). |
| Fulgent Genetics, |
RCV005016253 | SCV005646433 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive | 2024-06-04 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000009384 | SCV000029602 | pathogenic | Liddle syndrome 1 | 1998-06-01 | no assertion criteria provided | literature only |