ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1132C>T (p.Gln378Ter)

gnomAD frequency: 0.00001  dbSNP: rs61754390
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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 RCV000085900 SCV004296118 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln378*) 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 present in population databases (rs61754390, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 1487241). ClinVar contains an entry for this variant (Variation ID: 99536). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085900 SCV000118043 not provided not provided no assertion provided not provided

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