ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.112G>A (p.Val38Ile)

gnomAD frequency: 0.00001  dbSNP: rs587783214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145077 SCV000192118 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV005268557 SCV005936437 uncertain significance Inborn genetic diseases 2024-12-29 criteria provided, single submitter clinical testing The c.112G>A (p.V38I) alteration is located in exon 1 (coding exon 1) of the ASPM gene. This alteration results from a G to A substitution at nucleotide position 112, causing the valine (V) at amino acid position 38 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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