ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.696del (p.Ile233fs)

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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 RCV003857646 SCV004662135 pathogenic not provided 2024-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile233Phefs*86) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TYR-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003740 SCV005631343 likely pathogenic Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-26 criteria provided, single submitter clinical testing

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