Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000734128 | SCV000862245 | pathogenic | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000734128 | SCV000962845 | pathogenic | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe214Serfs*14) in the RXYLT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RXYLT1 are known to be pathogenic (PMID: 23217329, 23519211, 31742715). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RXYLT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597876). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000734128 | SCV001168386 | likely pathogenic | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the TMEM5 gene. The c.641delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.641delT variant in the TMEM5 gene causes a frameshift starting with codon Phenylalanine 214, changes this amino acid to a Serine residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Phe214SerfsX14. This frameshift variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.641delT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |