ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557442 SCV004296012 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This variant, c.782_793del, results in the deletion of 4 amino acid(s) of the TYRP1 protein (p.Cys261_Asp264del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760181936, gnomAD 0.09%). This variant has been observed in individual(s) with oculocutaneous albinism (PMID: 18821858, 21739261, 29345414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.780-791del . ClinVar contains an entry for this variant (Variation ID: 2735262). 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 RCV005047685 SCV005677703 likely pathogenic Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 2024-06-18 criteria provided, single submitter clinical testing

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