ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)

gnomAD frequency: 0.00006  dbSNP: rs587783218
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145082 SCV000192123 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000145082 SCV000894700 uncertain significance Microcephaly 5, primary, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001312116 SCV001502570 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ASPM: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001312116 SCV002171403 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 463 of the ASPM protein (p.Ser463Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs587783218, ExAC 0.03%). This variant has been observed in individual(s) with clinical features of primary microcephaly (PMID: 23611254). ClinVar contains an entry for this variant (Variation ID: 157780). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002514787 SCV003694335 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.1388G>A (p.S463N) alteration is located in exon 3 (coding exon 3) of the ASPM gene. This alteration results from a G to A substitution at nucleotide position 1388, causing the serine (S) at amino acid position 463 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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