ClinVar Miner

Submissions for variant NM_024006.6(VKORC1):c.196G>A (p.Val66Met) (rs72547529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853288 SCV000996125 pathogenic Warfarin response 2018-04-12 criteria provided, single submitter clinical testing This variant has been previously reported in the literature in patients with warfarin resistance (PMID: 15630486). Functional studies demonstrate almost complete loss of activity for the p.Val66Met variant relative to wild type (PMID: 23039877). There are 70 reports of the variant as a heterozygous change in the population database, gnomAD, thus the variant is rare. The p.Val66Met residue is highly conserved among vertebrates, and the methionine substitution is predicted to be damaging by in silico models. Based on the combined evidence, the variant is classified as pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV001120431 SCV001278915 benign Vitamin K-dependent clotting factors, combined deficiency of, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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