ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2453-1G>C

dbSNP: rs587783739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146319 SCV000193585 pathogenic Microcephaly 1, primary, autosomal recessive 2012-11-29 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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.

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