ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)

gnomAD frequency: 0.00004  dbSNP: rs749979474
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531121 SCV001746097 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001531121 SCV001795713 likely pathogenic not provided 2021-05-06 criteria provided, single submitter clinical testing Published functional studies have been inconsistent as to the effect of the R422W variant, with some studies showing only a slight decrease in enzyme activity and others showing no retained enzyme activity (Dolinska et al., 2014; Mondal et al., 2016; Dolinska et al., 2017; Farney et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 33177702, 32581362, 28976636, 28451379, 13680365, 30868138, 28667292, 27537549, 27775880, 24392141, 32898648)
Genome-Nilou Lab RCV001591148 SCV001821969 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001591148 SCV002580135 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2022-05-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470633 SCV004207578 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-09-07 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504932 SCV000598733 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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