Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731492 | SCV000859319 | uncertain significance | not provided | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001058434 | SCV001223007 | uncertain significance | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 293 of the EVC2 protein (p.Pro293Leu). This variant is present in population databases (rs138882677, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595833). 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"). 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 | RCV002535211 | SCV003725431 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.878C>T (p.P293L) alteration is located in exon 8 (coding exon 8) of the EVC2 gene. This alteration results from a C to T substitution at nucleotide position 878, causing the proline (P) at amino acid position 293 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |