ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)

dbSNP: rs1287763056
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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 RCV002015061 SCV002285273 uncertain significance DK1-congenital disorder of glycosylation 2024-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu445Profs*34) in the DOLK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 94 amino acid(s) of the DOLK protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1494676). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002015061 SCV002780829 uncertain significance DK1-congenital disorder of glycosylation 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045453 SCV005026254 uncertain significance Cardiovascular phenotype 2023-11-22 criteria provided, single submitter clinical testing The c.1332_1333dupCC variant, located in coding exon 1 of the DOLK gene, results from a duplication of CC at nucleotide position 1332, causing a translational frameshift with a predicted alternate stop codon (p.L445Pfs*34). This alteration occurs at the 3' terminus of theDOLK gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 17% of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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