ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1036+1G>A

gnomAD frequency: 0.00001  dbSNP: rs763715899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531120 SCV001746096 pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001587463 SCV001821956 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001531120 SCV002294667 pathogenic not provided 2023-01-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the TYR 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 TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs763715899, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with oculocutaneous albinism (PMID: 13680365, 32115698). 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: 1175803). 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.
Baylor Genetics RCV003463045 SCV004207619 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005950 SCV005631367 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-04-08 criteria provided, single submitter clinical testing

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