Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146319 | SCV000193585 | pathogenic | Microcephaly 1, primary, autosomal recessive | 2012-11-29 | criteria provided, single submitter | clinical testing | |
Department Of Translational Genomics |
RCV000171411 | SCV000221608 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Invitae | RCV000171411 | SCV004675164 | uncertain significance | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 13 of the MCPH1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is present in population databases (rs587783739, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MCPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 158863). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |