Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001048857 | SCV001212882 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 93 of the TYRP1 protein (p.Arg93Cys). This variant is present in population databases (rs387907171, gnomAD 0.02%). This missense change has been observed in individual(s) with lighter hair, skin and eye pigmentation in Pacific Islander populations (PMID: 22556244, 24449225). ClinVar contains an entry for this variant (Variation ID: 31621). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| OMIM | RCV000024318 | SCV000045609 | affects | Skin/hair/eye pigmentation, variation in, 11 | 2012-05-04 | no assertion criteria provided | literature only |