ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.820-3C>G

dbSNP: rs61754371
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194448 SCV000249342 pathogenic Tyrosinase-negative oculocutaneous albinism 2015-04-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000194448 SCV001821945 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460785 SCV004207570 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-09-24 criteria provided, single submitter clinical testing
Invitae RCV000085972 SCV004296110 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with ocular albinism (PMID: 13680365, 31077556). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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. This sequence change falls in intron 1 of the TYR gene. It does not directly change the encoded amino acid sequence of the TYR protein. It affects a nucleotide within the consensus splice site. This variant is also known as IVS1-3C>G. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 99582).
Retina International RCV000085972 SCV000118115 not provided not provided no assertion provided not provided

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