Table 2 List of VUS variants observed in the proband
GENE | OMIM | Mutation | Gnomad | ClinVar |
|---|---|---|---|---|
DSP | Arrhythmogenic right ventricular dysplasia 8 (MIM#607450), Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676) | NM_004415.4:c.8586delC p.(Ser2264Hisfs*20) | Not found | Not reported |
DOLK | Congenital disorder of glycosylation, type Im (MIM#610768) | NM_014908.4:c.247C>T p.(Pro83Ser) | Not found | Not reported |
LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient (MIM#607855), Muscular dystrophy, limb-girdle, autosomal recessive 23 (MIM#618138) | NM_000426.4:c.9262A>G p.(Ile3088Val) | 3.5e-05 | VCV000968551.4 VUS (2 submissions) LB (1 submission) |
PRKAR1A | Carney complex, type 1 (MIM#160,980), Acrodysostosis 1, with or without hormone resistance (MIM#101800) | NM_212471.3:c.973+48C>T | 7.0e-06 | Not reported |