Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003768982 | SCV001236271 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2020-11-11 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs777659552, ExAC 0.004%). This sequence change replaces tyrosine with cysteine at codon 384 of the EFHC1 protein (p.Tyr384Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. |
| Ambry Genetics | RCV004030770 | SCV003546278 | uncertain significance | not specified | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.1151A>G (p.Y384C) alteration is located in exon 7 (coding exon 7) of the EFHC1 gene. This alteration results from a A to G substitution at nucleotide position 1151, causing the tyrosine (Y) at amino acid position 384 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |