Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hereditary Hearing Loss Research Unit, |
RCV001249184 | SCV001366118 | pathogenic | Autosomal recessive nonsyndromic hearing loss 70 | criteria provided, single submitter | case-control | ||
Invitae | RCV002069318 | SCV002392082 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002069318 | SCV004036944 | uncertain significance | not provided | 2023-09-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Identified in the compound heterozygous state with a second PNPT1 variant in an individual with hearing loss (Vanniya et al., 2022); This variant is associated with the following publications: (PMID: 34374074) |
Neuberg Centre For Genomic Medicine, |
RCV003339565 | SCV004048004 | uncertain significance | Combined oxidative phosphorylation defect type 13 | criteria provided, single submitter | clinical testing | The missense variant c.1619A>G (p.Asn540Ser) in PNPT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Pathogenic. The p.Asn540Ser variant is reported with allele frequency of 0.02% in gnomAD exomes and novel in gnomAD Exomes and 1000 Genomes. The amino acid Asn at position 540 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asn540Ser in PNPT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant the molecular diagnosis is not confirmed. |