ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.806G>A (p.Arg269Gln) (rs1349343839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665403 SCV000789521 uncertain significance Pyruvate carboxylase deficiency 2017-02-03 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000665403 SCV001438880 likely pathogenic Pyruvate carboxylase deficiency criteria provided, single submitter clinical testing
Invitae RCV000665403 SCV001560883 uncertain significance Pyruvate carboxylase deficiency 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 269 of the PC protein (p.Arg269Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pyruvate carboxylase deficiency (PMID: 18676167). ClinVar contains an entry for this variant (Variation ID: 550614). 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: Probably Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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