ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)

dbSNP: rs1438220307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331789 SCV001523904 uncertain significance Polyendocrine-polyneuropathy syndrome 2020-01-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001859285 SCV002310455 uncertain significance not provided 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1674 of the DMXL2 protein (p.Lys1674Gln). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1030274). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Department of Biochemistry, Faculty of Medicine, University of Khartoum RCV002284217 SCV002573697 uncertain significance Spasticity criteria provided, single submitter research The two patients presented with spastic limbs. One had seizures and intellectual disability. No deafness.

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