ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) (rs121964960)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012795 SCV000793689 likely pathogenic Propionic acidemia 2017-08-22 criteria provided, single submitter clinical testing
Mendelics RCV000012795 SCV001136606 pathogenic Propionic acidemia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000012795 SCV001591310 pathogenic Propionic acidemia 2020-08-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 168 of the PCCB protein (p.Glu168Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs121964960, ExAC 0.03%). This variant has been observed in individual(s) with propionic acidemia (PMID: 9683601, 20549364). ClinVar contains an entry for this variant (Variation ID: 12015). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PCCB protein function. Experimental studies have shown that this variant affects PCCB protein function (PMID: 12757933, 11749052). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012795 SCV000033035 pathogenic Propionic acidemia 1998-08-01 no assertion criteria provided literature only
GeneReviews RCV000012795 SCV000055690 pathologic Propionic acidemia 2012-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.

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