Submissions for variant NM_000372.5(TYR):c.74dup (p.Ser26fs)

gnomAD frequency: 0.00001  dbSNP: rs1057518763

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198201	SCV001369071	pathogenic	Tyrosinase-negative oculocutaneous albinism	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
Genome-Nilou Lab	RCV001198201	SCV001821916	pathogenic	Tyrosinase-negative oculocutaneous albinism	2021-07-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821141	SCV002072112	pathogenic	not provided	2017-08-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001821141	SCV004294160	pathogenic	not provided	2023-08-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser26Leufs*3) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 373911). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 13680365). This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics	RCV004567901	SCV005054564	pathogenic	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	2024-03-11	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000414891	SCV000492538	pathogenic	Ocular albinism	2016-03-25	no assertion criteria provided	clinical testing