ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)

gnomAD frequency: 0.00001  dbSNP: rs140350881
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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 RCV001967779 SCV002217728 uncertain significance DK1-congenital disorder of glycosylation 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 532 of the DOLK protein (p.Leu532Phe). This variant is present in population databases (rs140350881, gnomAD 0.003%). 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: 1440881). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DOLK protein function. 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 RCV002397976 SCV002709727 uncertain significance Cardiovascular phenotype 2024-11-03 criteria provided, single submitter clinical testing The p.L532F variant (also known as c.1594C>T), located in coding exon 1 of the DOLK gene, results from a C to T substitution at nucleotide position 1594. The leucine at codon 532 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001967779 SCV002797583 uncertain significance DK1-congenital disorder of glycosylation 2021-08-11 criteria provided, single submitter clinical testing

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