ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser)

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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 RCV002985507 SCV003292485 uncertain significance not provided 2022-02-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 199 of the ADAMTSL4 protein (p.Pro199Ser). This variant is present in population databases (rs373288356, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV002985508 SCV003539688 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.595C>T (p.P199S) alteration is located in exon 6 (coding exon 4) of the ADAMTSL4 gene. This alteration results from a C to T substitution at nucleotide position 595, causing the proline (P) at amino acid position 199 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340580 SCV004049165 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003340579 SCV004049166 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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