Table 1.

Variant classification using ACMG 2015 and ACGS guidelines.

Gene	RHO
RefSeq transcript ID	NM_000539.3
g. notation (HGVS) (GRCh38/hg38)	g.129530918G > C
c. notation (HGVS)	c.404G > C
p. notation (HGVS)	p.(Arg135Pro)
Criteria	>  = 3 moderate pathogenic arguments (PM1, PM2, PM5)
Population data	PM2: The variant is NOT present in gnomAD
Genotype and phenotype of the patient	PP4_PP: the phenotype of the patient & family history is specific to one monogenic disorder caused by this gene
Literature and databases	PP5: variant is pathogenic following reliable sources ClinVar ID: 18,175,313, variant described in patients with ADRP
Computational predictions	PP3: prediction programs suggest a deleterious effect of the missense variant PM5: missense variant in a codon in which another pathogenic variant has been found (known pathogenic variant: p.(Arg137Ala) and variant p.(Arg137Cys). Pathogenic missense variant: c.404G > T p.(Arg135Leu) [transcript NM_000539.3]
Functional data	PM1: missense variant is located in mutation hotspot and/or domain in which no benign variants have been reported. * Hot spot/type domain: 7_tm1
Segregation data	PP1: the variant co-segregates with disease in several (additional) affected family members (1–2 family members). Number of affected family members with the variant: 3 (2 additional). Number of unaffected family members without the variant
Allelic data	Not applicable
Conclusion	CLASS 4 (Likely Pathogenic)

PM, pathogenic moderate; PP, pathogenic supporting; PS, pathogenic strong.