ClinVar Miner

Submissions for variant NM_182643.3(DLC1):c.1051C>T (p.Arg351Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004369833 SCV004855945 uncertain significance not specified 2024-02-21 criteria provided, single submitter clinical testing Does not currently meet published gene-disease clinical validity criteria Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005101879 SCV005748539 uncertain significance not provided 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 351 of the DLC1 protein (p.Arg351Trp). This variant is present in population databases (rs144283917, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DLC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 3047698). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
PreventionGenetics, part of Exact Sciences RCV003934768 SCV004765598 likely benign DLC1-related disorder 2022-07-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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