Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Table 4

PCARE variants identified in the cohort.

Variant	Allele count in our cohort	Type	Classification (ACMG)	Criteria (ACMG)	Reference
c.551A > G; (p.His184Arg)	4	Missense	LP	PM2, PM3, PP3, PP5	Novel
c.947del; (p.Asn316Metfs7)	2	Frameshift	P	PVS1, PM2, PP5	[9]
c.1837C > T; (p.Arg613)	6	Nonsense	P	PVS1, PM2, PP5	[11]
c.2950C > T; (p.Arg984)	8	Nonsense	P	PVS1, PM2, PP5	[14]
c.3048_3049del; (p.Tyr1016)	1	Nonsense	P	PVS1, PM2, PM3, PP5	Novel
c.3314_3315del; (p.Ser1105)	1	Nonsense	P	PVS1, PM2, PM3	Novel

LP, likely pathogenic; P, pathogenic. (NM_001029883.3).