ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.807+1G>T

gnomAD frequency: 0.00001  dbSNP: rs763219039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501883 SCV000596148 pathogenic Tyrosinase-positive oculocutaneous albinism 2017-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857136 SCV002289331 pathogenic not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the OCA2 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 OCA2 are known to be pathogenic (PMID: 19865097, 21541274). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individuals with ocular albinism (PMID: 34838614). ClinVar contains an entry for this variant (Variation ID: 436095). 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.
Fulgent Genetics, Fulgent Genetics RCV002490839 SCV002796167 pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-05-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470630 SCV004209030 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-06-01 criteria provided, single submitter clinical testing

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