ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002903455 SCV003252869 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 814 of the ADAMTSL4 protein (p.Asn814Asp). This variant is present in population databases (rs587653896, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2044134). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ADAMTSL4 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.
Ambry Genetics RCV002903456 SCV003735551 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.2440A>G (p.N814D) alteration is located in exon 15 (coding exon 13) of the ADAMTSL4 gene. This alteration results from a A to G substitution at nucleotide position 2440, causing the asparagine (N) at amino acid position 814 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340551 SCV004049626 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003340550 SCV004049628 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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