ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.346C>T (p.Arg116Ter)

gnomAD frequency: 0.00003  dbSNP: rs61753256
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503968 SCV000597784 pathogenic Tyrosinase-negative oculocutaneous albinism 2017-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763289 SCV000893936 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000085948 SCV001768243 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing Nonsense 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: 31077556, 23324268, 10671066, 26252096, 28507374, 31199599, 34426522, 32552135, 35923705, 28378818, 30996339)
Genome-Nilou Lab RCV000503968 SCV001821927 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000085948 SCV002239440 pathogenic not provided 2024-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg116*) 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 (rs61753256, gnomAD 0.03%). This premature translational stop signal has been observed in individuals with oculocutaneous albinism (PMID: 31077556, 31199599). ClinVar contains an entry for this variant (Variation ID: 99565). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467007 SCV004207620 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-03-06 criteria provided, single submitter clinical testing
Retina International RCV000085948 SCV000118091 not provided not provided no assertion provided not provided

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