Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

Table 1 Identified variant in this study

Gene/transcript	Variant	¹CADD	²SIFT	³PolyPhen-2	⁴PROVEAN	⁵FATHMM	⁶GERP++
NF1 NM_001042492.3	c.3277G > A p.Val1093Met	28.7	0.04	0.9	-2.8	0.9	5.3

¹ CADD, Phred ≤ 20: Natural; Phred > 20: Damaging
² SIFT, score ≤ 0.05: Deleterious; score > 0.05: Tolerable
³ PolyPhen-2, score ≤ 0.15: Benign; score > 0.85: Damaging
⁴ PROVEAN, score ≤ -2.5: Deleterious; score > -2.5: Tolerable
⁵ FATHMM, score ≤ 0.5: Neutral; score > 0.5: Deleterious
⁶ GERP + + scores range from − 12.3 to 6.17, higher scores indicating conserve locus.

ISSN: 1471-2261