ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1164del (p.His389fs)

dbSNP: rs281865522
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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 RCV000085905 SCV003440586 pathogenic not provided 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His389Thrfs*96) in the TYR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 141 amino acid(s) of the TYR protein. This variant is present in population databases (rs773463933, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with Oculocutaneous albinism (PMID: 1642278, 18463683). This variant is also known as 388 CTT(Leu)-CT-FS. ClinVar contains an entry for this variant (Variation ID: 3799). This variant disrupts a region of the TYR protein in which other variant(s) (p.Asp448Asn) have been determined to be pathogenic (PMID: 1642278, 10987646, 13680365, 27734839). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004003 SCV000024169 pathogenic Tyrosinase-negative oculocutaneous albinism 1992-07-15 no assertion criteria provided literature only
Retina International RCV000085905 SCV000118048 not provided not provided no assertion provided not provided

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