ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2214+2T>C

gnomAD frequency: 0.00001  dbSNP: rs575037500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001095704 SCV001251522 likely pathogenic Microcephaly 1, primary, autosomal recessive criteria provided, single submitter research The MCPH1 c.2214+2T>C (p.?) variant is predicted to disrupt a splice site.
GeneDx RCV001567554 SCV001791263 likely pathogenic not provided 2021-01-15 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, though splice outcome is unknown; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001567554 SCV002285044 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 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 (rs575037500, 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: 873472). 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.

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