ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.2980G>A (p.Glu994Lys)

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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 RCV002642446 SCV002978105 uncertain significance not provided 2025-01-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 994 of the ADAMTSL4 protein (p.Glu994Lys). This variant is present in population databases (rs756215120, gnomAD 0.03%). 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: 1936000). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ADAMTSL4 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 RCV002636192 SCV003667200 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.2980G>A (p.E994K) alteration is located in exon 18 (coding exon 16) of the ADAMTSL4 gene. This alteration results from a G to A substitution at nucleotide position 2980, causing the glutamic acid (E) at amino acid position 994 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340529 SCV004049681 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003340528 SCV004049684 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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