ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) (rs121964959)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012791 SCV000789286 likely pathogenic Propionyl-CoA carboxylase deficiency 2017-01-17 criteria provided, single submitter clinical testing
GeneReviews RCV000012791 SCV000055678 pathologic Propionyl-CoA carboxylase deficiency 2012-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000012791 SCV000631912 pathogenic Propionyl-CoA carboxylase deficiency 2016-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 410 of the PCCB protein (p.Arg410Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs121964959, ExAC 0.006%). This variant has been reported in the literature in individuals affected with propionic acidemia as homozygous (PMID: 8411997) and as a compound heterozygous (PMID: 12007220, 22033733). ClinVar contains an entry for this variant (Variation ID: 12011). Experimental studies have shown that this missense change disrupts protein function leading to reduced enzymatic activity (PMID: 15949719, 12757933, 15890657). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012791 SCV000033031 pathogenic Propionyl-CoA carboxylase deficiency 1999-01-01 no assertion criteria provided literature only

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