ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)

dbSNP: rs765024056
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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 RCV003988464 SCV004804525 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: TYR c.1556_1557delAG (p.Glu519GlyfsX27) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 8e-05 in 275138 control chromosomes, predominantly at a frequency of 0.00089 within the African or African-American subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in TYR causing Oculocutaneous Albinism (8e-05 vs 0.0056), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1556_1557delAG in individuals affected with Oculocutaneous Albinism and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005003748 SCV005631399 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-04-23 criteria provided, single submitter clinical testing

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