ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.629C>T (p.Pro210Leu)

gnomAD frequency: 0.00001  dbSNP: rs121918145
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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 RCV000778563 SCV002243051 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2021-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with protein C deficiency (PMID: 1347608, 18573519, 21621249, 7482420, 31254973). It has also been observed to segregate with disease in related individuals. This variant is also known as 6216C>T; Pro168Leu in the literature. ClinVar contains an entry for this variant (Variation ID: 661). This variant is present in population databases (rs121918145, ExAC 0.002%). This sequence change replaces proline with leucine at codon 210 of the PROC protein (p.Pro210Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.
OMIM RCV000000696 SCV000020846 pathogenic Thrombophilia due to protein C deficiency, autosomal recessive 1992-03-21 no assertion criteria provided literature only

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