ClinVar Miner

Submissions for variant NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe)

dbSNP: rs1554826767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535562 SCV000638528 uncertain significance DK1-congenital disorder of glycosylation 2023-12-06 criteria provided, single submitter clinical testing This variant, c.971_974delinsT, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the DOLK protein (p.Ser324_Ser325delinsPhe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DOLK-related conditions. 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.

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