ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)

gnomAD frequency: 0.00001  dbSNP: rs757534748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352317 SCV001546864 likely benign Propionic acidemia 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547553 SCV003545343 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.332G>A (p.R111Q) alteration is located in exon 3 (coding exon 3) of the PCCB gene. This alteration results from a G to A substitution at nucleotide position 332, causing the arginine (R) at amino acid position 111 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001352317 SCV002081468 uncertain significance Propionic acidemia 2020-04-05 no assertion criteria provided clinical testing

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