ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1261+1G>A

gnomAD frequency: 0.00021  dbSNP: rs140365820
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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 RCV000500963 SCV000597808 pathogenic Oculocutaneous albinism type 3 2016-11-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000596345 SCV000707887 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000596345 SCV001823052 likely pathogenic not provided 2020-12-07 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32581362, 28838317, 28041643)
Invitae RCV000596345 SCV002230864 pathogenic not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the TYRP1 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 TYRP1 are known to be pathogenic (PMID: 8651291, 9345097). This variant is present in population databases (rs140365820, gnomAD 0.08%). Disruption of this splice site has been observed in individual(s) with albinism (PMID: 28041643). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 437186). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504849 SCV000599079 likely pathogenic Albinism 2015-01-01 no assertion criteria provided research

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