ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1185-2A>G

dbSNP: rs1289685376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV001174526 SCV001132036 pathogenic Oculocutaneous albinism type 1B criteria provided, single submitter research
Genome-Nilou Lab RCV001593159 SCV001821965 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858606 SCV002247388 pathogenic not provided 2023-07-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the TYR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with ocular albinism and/or oculocutaneous albinism (PMID: 32411182; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 800543). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004569822 SCV005054565 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005004473 SCV005631381 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

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