Table 2.

Prediction of the likely impact of novel variants.

	Proband 1	Family 2	Proband 3
Transcript ID	NM_007126.5(VCP):c.1106T>C	NM_007126.5(VCP):c.478G>C	NM_007126.5(VCP):c.760A>T
Protein	NP_009057.1:p.Ile369Thr	NP_009057.1:p.Ala160Pro	NP_009057.1:p.Ile254Phe
Protein domain of variant localization	D1	NTD	D1
Type of single nucleotide variant	Missense	Missense	Missense
Allelic status	Heterozygous	Heterozygous	Heterozygous
Ascertainment	Clinical exome	Research exome	Gene panel
gnomAD V.2.1.1.	Absent	Absent	Absent
Ancestry	South Asian Indian	European, Ashkenazi Jewish	Chinese
ClinVar classification as of 2/3/22	Uncertain significance. Accession: VCV000963526.7	Uncertain significance (4 total: 3 entries (2017–2021) IBMPFD (2 individuals), condition not provided (1 individual), and pathogenic (2018) (1 individual). Accession: VCV000532761.20	Uncertain significance (1 entry IBMPFD). Accession: RCV002301822.1
MutationTaster (v2021) prediction	Deleterious Tree vote: 84|16 (del|benign)	Deleterious Tree vote: 87|13 (del|benign)	Deleterious Tree vote: 80|20 (del|benign).
Conservation between multiple species	Ile present in 12/12 (total species)	Ala present in 10/12 (total species) Absent in fruit fly, C. elegans	Ile present in 12/12 (total species)
PolyPhen-2 v2.2.3r406 prediction and score	Possibly damaging, 1.00	Benign, 0.002	Possibly damaging, 0.873