ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002707340 SCV003548602 uncertain significance Inborn genetic diseases 2020-11-06 criteria provided, single submitter clinical testing The c.136C>A (p.Q46K) alteration is located in exon 2 (coding exon 2) of the PMPCB gene. This alteration results from a C to A substitution at nucleotide position 136, causing the glutamine (Q) at amino acid position 46 to be replaced by a lysine (K). Based on data from the Genome Aggregation Database (gnomAD) database, the PMPCB c.136C>A alteration was observed in 0.0014% (4/282842) of total alleles studied, with a frequency of 0.02% (4/24972) in the African subpopulation. This amino acid position is well conserved in available vertebrate species. The p.Q46K alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492808 SCV004236192 uncertain significance Multiple mitochondrial dysfunctions syndrome 6 2023-08-09 criteria provided, single submitter clinical testing

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