ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.338_339del (p.Thr113fs)

dbSNP: rs61753254
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000085946 SCV000704173 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588918 SCV001821926 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085946 SCV004296101 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr113Argfs*55) 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 (rs61753254, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 10987646). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800286 SCV005422260 pathogenic Oculocutaneous albinism 2024-10-14 criteria provided, single submitter clinical testing Variant summary: TYR c.338_339delCA (p.Thr113ArgfsX55) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 8e-06 in 251356 control chromosomes (gnomAD). c.338_339delCA has been reported in the literature in individuals affected with Oculocutaneous Albinism (e.g. Passmore_1999). The following publication has been ascertained in the context of this evaluation (PMID: 10987646). ClinVar contains an entry for this variant (Variation ID: 99563). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005008005 SCV005631914 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-04-06 criteria provided, single submitter clinical testing
Retina International RCV000085946 SCV000118089 not provided not provided no assertion provided not provided

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