ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.400+5G>T

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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 RCV003494639 SCV004293368 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2025-01-22 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the PROC gene. It does not directly change the encoded amino acid sequence of the PROC protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with protein C deficiency (PMID: 1868249, 31254973). It has also been observed to segregate with disease in related individuals. This variant is also known as 3222 G>T. ClinVar contains an entry for this variant (Variation ID: 2734266). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts the c.400+5G nucleotide in the PROC gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 1868249, 2783855; internal data). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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