ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.286dup (p.Met96fs)

dbSNP: rs61753190
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001813947 SCV001755130 likely pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000003991 SCV001810233 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000003991 SCV002579888 pathogenic Tyrosinase-negative oculocutaneous albinism 2022-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000085942 SCV002756539 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 1905879)
Baylor Genetics RCV003460418 SCV004207566 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085942 SCV004296100 pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met96Asnfs*73) 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: 1905879). This variant is also known as a single base insertion at codon 96 resulting in a premature termination signal at codon 168. ClinVar contains an entry for this variant (Variation ID: 3788). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003991 SCV000024157 pathogenic Tyrosinase-negative oculocutaneous albinism 1991-07-01 no assertion criteria provided literature only
Retina International RCV000085942 SCV000118085 not provided not provided no assertion provided not provided

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