ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.400G>T (p.Glu134Ter)

gnomAD frequency: 0.00001  dbSNP: rs1257816310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387152 SCV001587703 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2020-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PROC are known to be pathogenic (PMID: 17152060). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of protein C deficiency (PMID: 18954896, 7482420). This variant is also known as 3217G>T p.E92Stop in the literature. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu134*) in the PROC gene. It is expected to result in an absent or disrupted protein product.

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