ClinVar Miner

Submissions for variant NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) (rs146395561)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437493 SCV000530531 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DOLK gene. The F372I variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed 52/24040 (0.2%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The F372I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Invitae RCV000437493 SCV000638504 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing

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