ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1109T>C (p.Met370Thr)

dbSNP: rs61754385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323396 SCV004028634 uncertain significance not specified 2023-07-26 criteria provided, single submitter clinical testing Variant summary: TYR c.1109T>C (p.Met370Thr) results in a non-conservative amino acid change located in the copper-binding domain (IPR002227) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250946 control chromosomes (gnomAD). c.1109T>C has been reported in the literature as a compound heterozygous genotype in at least two individuals affected with Albinism/Oculocutaneous Albinism (Breimer_1994, Wei_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 7955413, 34838614). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Retina International RCV000085895 SCV000118038 not provided not provided no assertion provided not provided

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