Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis

Table 1

Novel LFNG variants associated with the SCD3 proband.

Variant	c.766G>A	c.521G>A
DNA change (GRCh38)	NC_000007.14:g.2525715G>A	NC_000007.14:g.2525258G>A
ClinVar ID	1003507	1062453
SNPdb ID	rs1437427476	N/A
LOVD DB ID	LFNG_000035	LFNG_000034
gnomAD v3.1.2
Protein	p.G256S	p.R174H
SIFT	Likely deleterious	Tolerated
PolyPhen-2	Damaging	Possibly damaging
Align-GVGD	Class C55	Class C25
CADD	25.6 (3.67)	25.6 (3.66)
REVEL	0.889	0.515

Note: LFNG transcript: RefSeq NM_001040167.2 (MANE select) (clone NP_001035257). CADD raw score.