ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002601089 SCV002943653 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). 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. 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ASPM-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1519 of the ASPM protein (p.Lys1519Arg).
Ambry Genetics RCV002601090 SCV003624832 uncertain significance Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing The c.4556A>G (p.K1519R) alteration is located in exon 18 (coding exon 18) of the ASPM gene. This alteration results from a A to G substitution at nucleotide position 4556, causing the lysine (K) at amino acid position 1519 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455539 SCV004178666 uncertain significance Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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