ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1099G>A (p.Val367Met)

gnomAD frequency: 0.00001  dbSNP: rs140582220
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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 RCV001378884 SCV001576572 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2020-03-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Val367 (also known as Val325) amino acid residue in PROC. Other variant(s) that disrupt this residue have been observed in individuals with PROC-related conditions (PMID: 7841324), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of protein C deficiency (PMID: 10669160, 28174134, 22627591, 27995882). This variant is also known as Val325Met, V325M, and G15240A in the literature. This variant is present in population databases (rs140582220, ExAC 0.002%). This sequence change replaces valine with methionine at codon 367 of the PROC protein (p.Val367Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine.

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