Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001009246 | SCV001169067 | likely pathogenic | not provided | 2019-02-06 | criteria provided, single submitter | clinical testing | The c.938_939dupCC variant in the TYR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.938_939dupCC variant causes a frameshift starting with codon Serine 314, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Ser314ProfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.938_939dupCC variant is observed in 1/16252 alleles from individuals of African background in large population cohorts (Lek et al., 2016). We interpret c.938_939dupCC as a likely pathogenic variant. |
| Labcorp Genetics |
RCV001009246 | SCV004482842 | pathogenic | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818005). This variant has not been reported in the literature in individuals affected with TYR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Ser314Profs*6) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). |
| Fulgent Genetics, |
RCV005012440 | SCV005631365 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-04-12 | criteria provided, single submitter | clinical testing |