ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) (rs879253815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236206 SCV000256890 pathogenic Propionic acidemia criteria provided, single submitter research
Counsyl RCV000236206 SCV000790966 likely pathogenic Propionic acidemia 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000236206 SCV001409028 pathogenic Propionic acidemia 2019-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 165 of the PCCB protein (p.Arg165Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another PCCB variant in individuals affected with propionic acidemia (PMID: 8295402, 27227689, 9683601, 15949719, 15059621). ClinVar contains an entry for this variant (Variation ID: 217894). This variant has been reported to affect PCCB protein function (PMID: 12007220, 12757933, 11749052, 15890657). This variant disrupts the p.Arg165 amino acid residue in PCCB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11749052, 12757933, 12757933). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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