Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000003969 | SCV000597794 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085980 | SCV000617798 | pathogenic | not provided | 2020-01-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26252096, 1970634, 27829221, 2511845, 19865097, 23504663, 18590551, 1903591, 18463683, 11284711, 22042571, 16767664, 31199599, 31077556, 32901917, 10929771) |
Ambry Genetics | RCV000623277 | SCV000742862 | pathogenic | Inborn genetic diseases | 2017-09-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000003969 | SCV001821951 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
3billion | RCV000003969 | SCV002012353 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-10-02 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.00004379, PM2). The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000264684.5). Patient's phenotype is considered compatible with Albinism, Oculicutaneous, Type 1A (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Invitae | RCV000085980 | SCV002239442 | pathogenic | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg311Lysfs*7) 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). This variant is present in population databases (rs371141427, gnomAD 0.06%). This premature translational stop signal has been observed in individuals with clinical features of oculocutaneous albinism (PMID: 27829221; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as c.929_930insC. ClinVar contains an entry for this variant (Variation ID: 3771). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003460412 | SCV004207541 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-10-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003969 | SCV000024134 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 1989-11-15 | no assertion criteria provided | literature only | |
Retina International | RCV000085980 | SCV000118123 | not provided | not provided | no assertion provided | not provided |