ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.862_863del (p.Leu288fs)

dbSNP: rs2135253151
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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 RCV001949396 SCV002245795 pathogenic not provided 2024-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu288Metfs*12) 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 premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 10571953). This variant is also known as 861_862delTT. ClinVar contains an entry for this variant (Variation ID: 1458009). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005002723 SCV005631354 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-04-30 criteria provided, single submitter clinical testing

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