ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.691G>A (p.Val231Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985183 SCV004801501 uncertain significance Hoyeraal-Hreidarsson syndrome 2020-10-20 criteria provided, single submitter clinical testing The DKC1 c.691G>A (p.Val231Met) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not reported in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the available evidence, the p.Val231Met variant is classified as a variant of uncertain significance for Hoyeraal-Hreidarsson syndrome.

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