Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262945 | SCV001441004 | pathogenic | Pyruvate kinase deficiency of red cells | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV001262945 | SCV003807722 | pathogenic | Pyruvate kinase deficiency of red cells | 2023-01-18 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PM2 moderated, PM3 very strong, PP3 supporting |
Revvity Omics, |
RCV003135903 | SCV003822996 | pathogenic | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003405471 | SCV004112726 | pathogenic | PKLR-related condition | 2023-03-14 | criteria provided, single submitter | clinical testing | The PKLR c.1594C>T variant is predicted to result in the amino acid substitution p.Arg532Trp. This variant has previously been reported to be causative of autosomal recessive pyruvate kinase deficiency (Lenzner et al 1994. PubMed ID: 8180378; Valentini G et al 2002. PubMed ID: 11960989; Russo R et al 2018. PubMed ID: 29396846). This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-155261571-G-A). This variant is interpreted as pathogenic. |