ClinVar Miner

Submissions for variant NM_014908.3(DOLK):c.725G>A (p.Ser242Asn) (rs876657786)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217175 SCV000271702 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing The p.Ser242Asn variant in DOLK has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ser242Asn var iant is uncertain.
Invitae RCV000639758 SCV000761339 uncertain significance Congenital disorder of glycosylation type 1M 2017-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 242 of the DOLK protein (p.Ser242Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOLK-related disease. ClinVar contains an entry for this variant (Variation ID: 228619). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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