ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.572C>A (p.Pro191His)

gnomAD frequency: 0.00002  dbSNP: rs767965852
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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 RCV000639754 SCV000761335 uncertain significance DK1-congenital disorder of glycosylation 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 191 of the DOLK protein (p.Pro191His). This variant is present in population databases (rs767965852, gnomAD 0.05%). 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: 532845). 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 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 RCV002343266 SCV002650210 uncertain significance Cardiovascular phenotype 2023-02-16 criteria provided, single submitter clinical testing The p.P191H variant (also known as c.572C>A), located in coding exon 1 of the DOLK gene, results from a C to A substitution at nucleotide position 572. The proline at codon 191 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV000639754 SCV002812822 uncertain significance DK1-congenital disorder of glycosylation 2021-09-08 criteria provided, single submitter clinical testing

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