Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001368248 | SCV001564634 | uncertain significance | Cohen syndrome | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 852 of the VPS13B protein (p.Ser852Leu). This variant is present in population databases (rs147682334, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1059039). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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. |
Ambry Genetics | RCV004968138 | SCV005531721 | uncertain significance | Inborn genetic diseases | 2024-09-18 | criteria provided, single submitter | clinical testing | The c.2555C>T (p.S852L) alteration is located in exon 18 (coding exon 17) of the VPS13B gene. This alteration results from a C to T substitution at nucleotide position 2555, causing the serine (S) at amino acid position 852 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001368248 | SCV002079522 | uncertain significance | Cohen syndrome | 2020-07-14 | no assertion criteria provided | clinical testing |