ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.5333G>C (p.Gly1778Ala)

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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 RCV002741966 SCV003027240 uncertain significance not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1778 of the DMXL2 protein (p.Gly1778Ala). This variant is present in population databases (rs186940430, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DMXL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1978892). 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.
Ambry Genetics RCV002775165 SCV003582218 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.5333G>C (p.G1778A) alteration is located in exon 23 (coding exon 23) of the DMXL2 gene. This alteration results from a G to C substitution at nucleotide position 5333, causing the glycine (G) at amino acid position 1778 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002741966 SCV005878439 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing

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