Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000672538 | SCV000797651 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-02-05 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000710392 | SCV000840604 | uncertain significance | not provided | 2018-07-20 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000710392 | SCV003439612 | uncertain significance | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1536 of the ABCC8 protein (p.Ala1536Val). This variant is present in population databases (rs745918247, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of ABCC8-related conditions (PMID: 21674179, 33046911, 34015902). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 556519). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects ABCC8 function (PMID: 21674179). 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. |