ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1456del (p.Ala486fs)

dbSNP: rs1590909462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV000991224 SCV000925975 pathogenic Tyrosinase-negative oculocutaneous albinism 2019-06-28 criteria provided, single submitter research The NM_000372.5:c.1456delG variant has not been previously described in the literature and in our study. It is presented in homozygous status in an individual with classical phenotype of albinism. The c.1456delG variant meets our criteria to be classified as pathogenic according to ACMG Guidelines, 2015.
Genome-Nilou Lab RCV000991224 SCV001821973 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012316 SCV005631397 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-29 criteria provided, single submitter clinical testing

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