ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter)

dbSNP: rs776034810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605641 SCV000731358 likely pathogenic Autosomal recessive primary microcephaly 2016-12-22 criteria provided, single submitter clinical testing The p.Gln1574X (NM_018136.4 c.4720C>T) variant in ASPM has not been reported in the literature. This nonsense variant leads to a premature termination codon at position 1574, which is predicted to lead to a truncated or absent protein. Bial lelic loss of function of the ASPM gene has been associated with primary microce phaly type 5. This variant has been identified in 1/6550 of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776034810). Although this variant has been seen in the general population, it s frequency is low enough to be consistent with a recessive carrier frequency. In summary, although additional studies are required to fully establish a null e ffect on the protein, the p.Gln1574X variant in ASPM is likely pathogenic for pr imary microcephaly type 5 in an autosomal recessive manner based upon its predic ted functional impact.

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