ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.216del (p.Val74fs)

dbSNP: rs1565386406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037809 SCV002230110 pathogenic not provided 2021-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val74Trpfs*46) 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 (ExAC no frequency). This variant has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 24721949, 30472657). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464292 SCV004207602 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-06-06 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796690 SCV005416693 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP4

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