Submissions for variant NM_000372.5(TYR):c.1110G>A (p.Met370Ile)

gnomAD frequency: 0.00001  dbSNP: rs1207709557

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000767859	SCV000897702	pathogenic	Tyrosinase-negative oculocutaneous albinism	2019-02-27	criteria provided, single submitter	clinical testing	The observed variant NM_000372.4:c.1110G>A (M370I) is a de novo missense variation found in exon 3 of the TYR gene. It has been reported in the gnomAD database with an allele frequency of 0.00000407. The in silico prediction of this variant is disease causing by MutationTaster2. The proband's parents are heterozygous carriers of the following mutations in the TYR gene: c.1147G>A (p.Asp383Asn) in exon 3 and c.1217C>T (p.pro406leu) in exon 4, both mutations are in cis. Furthermore, the variant c.1110G>A is not observed in both parents. Thus the proband has the parent's mutations in trans with the said variant : c.1110G>A. In summary, the variant meets the ACMG criteria to be classified as likely pathogenic based upon the evidence stated above.
Fulgent Genetics, Fulgent Genetics	RCV005012292	SCV005631373	likely pathogenic	Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	2024-04-15	criteria provided, single submitter	clinical testing