ClinVar Miner

Submissions for variant NM_182643.3(DLC1):c.2540G>A (p.Gly847Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003669929 SCV004386629 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 847 of the DLC1 protein (p.Gly847Asp). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DLC1-related conditions. 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 tolerated. 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 RCV004907865 SCV005565340 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.2540G>A (p.G847D) alteration is located in exon 9 (coding exon 8) of the DLC1 gene. This alteration results from a G to A substitution at nucleotide position 2540, causing the glycine (G) at amino acid position 847 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047725 SCV005677844 uncertain significance Colorectal cancer 2024-06-17 criteria provided, single submitter clinical testing

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