ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) (rs199422146)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454234 SCV000537956 likely pathogenic Microcephaly criteria provided, single submitter research
GeneDx RCV000483372 SCV000566012 pathogenic not provided 2018-01-19 criteria provided, single submitter clinical testing The c.1729_1730delAG pathogenic variant in the ASPM gene has been reported previously as a homozgyous variant in a family with microcephaly and severe intellectual diability (Bond et al., 2003). The deletion causes a frameshift starting with codon Serine 577, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Ser577ArgfsX33. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GeneReviews RCV000020749 SCV000041328 pathologic Primary autosomal recessive microcephaly 5 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000020749 SCV001432340 pathogenic Primary autosomal recessive microcephaly 5 no assertion criteria provided clinical testing

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