ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.1249C>T (p.Arg417Cys)

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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 RCV002700229 SCV002995014 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 417 of the ADAMTSL4 protein (p.Arg417Cys). This variant is present in population databases (rs752923405, gnomAD 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002681734 SCV003528741 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.1249C>T (p.R417C) alteration is located in exon 8 (coding exon 6) of the ADAMTSL4 gene. This alteration results from a C to T substitution at nucleotide position 1249, causing the arginine (R) at amino acid position 417 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003340534 SCV004049205 uncertain significance Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003340533 SCV004049206 uncertain significance Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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