Submissions for variant NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004690854	SCV005186129	likely pathogenic	Oculocutaneous albinism type 3	2024-05-01	criteria provided, single submitter	clinical testing	Variant summary: TYRP1 c.88T>C (p.Cys30Arg) results in a non-conservative amino acid change in 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 251048 control chromosomes. c.88T>C has been reported in the compound heterozygous state in individuals affected with Oculocutaneous albinism type 3 (Yamada_2011). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Yamada_2011, Dolinksa_2023). The following publications have been ascertained in the context of this evaluation (PMID: 36412553, 21996312). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005051467	SCV005677698	likely pathogenic	Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR	2024-05-06	criteria provided, single submitter	clinical testing