ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.400+1G>A

dbSNP: rs1189377845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818570 SCV000959190 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2018-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PROC are known to be pathogenic (PMID: 17152060). Disruption of this splice site has been observed in individuals affected with protein C deficiency (PMID: 9840027, 22627591). 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 affects a donor splice site in intron 5 of the PROC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV004731041 SCV005337639 likely pathogenic PROC-related disorder 2024-05-23 no assertion criteria provided clinical testing The PROC c.400+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge this variant has not been reported in literature. This variant has not been reported in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice donor site in PROC are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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