ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His)

gnomAD frequency: 0.00003  dbSNP: rs141240137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218238 SCV000279733 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000763779 SCV000894688 uncertain significance Microcephaly 5, primary, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000763779 SCV004177526 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678649 SCV005166474 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.10057T>C (p.Y3353H) alteration is located in exon 26 (coding exon 26) of the ASPM gene. This alteration results from a T to C substitution at nucleotide position 10057, causing the tyrosine (Y) at amino acid position 3353 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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