ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289264 SCV002579885 uncertain significance Microcephaly 5, primary, autosomal recessive 2022-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097774 SCV003490755 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 502 of the ASPM protein (p.Ala502Gly). This variant is present in population databases (rs140410863, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ASPM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1709449). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ASPM protein function with a negative predictive value of 80%. 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.
Genome-Nilou Lab RCV002289264 SCV004178758 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047606 SCV004910675 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.1505C>G (p.A502G) alteration is located in exon 3 (coding exon 3) of the ASPM gene. This alteration results from a C to G substitution at nucleotide position 1505, causing the alanine (A) at amino acid position 502 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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