Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Table 2 In silico prediction used to confirm the pathogenicity of the identified variant in PRUNE1

Variant	Gene/genomic Position (hg19)	Zygosity
		Patient	Mother	Father	MutationTaster	EXACT	SIFT	PROVEAN	PolyPhen-2	Iranome	FATHMM-MKL	Varsome	ACMG Classification
c.3G>A; p.(Met1?)	PRUNE1 (chr1-150981111-G-A)	Hom	Het	Het	Disease causing	–	Damaging	Neutral	Probably Damaging	–	Damaging	Pathogenic	Likely pathogenic

ISSN: 1755-8794