ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1015G>A (p.Val339Met)

gnomAD frequency: 0.00002  dbSNP: rs121918158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266003 SCV001444175 pathogenic Inborn genetic diseases 2019-10-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781151 SCV002019523 pathogenic not provided 2019-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000000712 SCV004293372 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 339 of the PROC protein (p.Val339Met). This variant is present in population databases (rs121918158, gnomAD 0.002%). This missense change has been observed in individual(s) with PROC-related conditions (PMID: 7670104, 25712501, 27081530). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as p.Val297Met. ClinVar contains an entry for this variant (Variation ID: 677). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PROC protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000712 SCV000020862 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 1993-08-01 no assertion criteria provided literature only

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