ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)

gnomAD frequency: 0.00004  dbSNP: rs766759178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813534 SCV000953897 uncertain significance DK1-congenital disorder of glycosylation 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 305 of the DOLK protein (p.Ser305Cys). This variant is present in population databases (rs766759178, 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: 656997). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002372292 SCV002686111 uncertain significance Cardiovascular phenotype 2023-08-11 criteria provided, single submitter clinical testing The p.S305C variant (also known as c.914C>G), located in coding exon 1 of the DOLK gene, results from a C to G substitution at nucleotide position 914. The serine at codon 305 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000813534 SCV002777177 uncertain significance DK1-congenital disorder of glycosylation 2022-03-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693352 SCV005191114 uncertain significance not provided criteria provided, single submitter not provided

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