ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1216A>G (p.Met406Val)

dbSNP: rs1553425459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657992 SCV000779763 likely pathogenic not provided 2018-05-15 criteria provided, single submitter clinical testing The M406V variant in the PROC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, a missense variant at this same codon (M406I) as well as missense variants in neighboring codons (D401N, G403R, G404E, P405A, V407A, F410S) have been reported in the Human Gene Mutation Database in association with protein C deficiency (Kim et al., 2014; Inoue et al., 2017; Stenson et al., 2014). The M406V variant is not observed in large population cohorts (Lek et al., 2016). The M406V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret M406V as a likely pathogenic variant.
CeGaT Center for Human Genetics Tuebingen RCV000657992 SCV000892579 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing

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