Case: Family J Proband JII-1, male, 12yo at report

CasePresentingHPOs: HP:0000953, HP:0030053, HP:0000998, HP:0000054, HP:0002240, HP:0031664, HP:0000365, HP:0012385, HP:0034373, HP:0001084, HP:0000771

CasePresentingHPOsFreeText: subcutaneous masses in genital area, dilated lateral scleral vasculature

CaseNOTHPOs: HP:0001822, HP:0000520, HP:0002619, HP:0007380, HP:0001256

CaseNOTHPOSFreeText:

CasePreviousTesting: Direct sequencing of AIFM2, ADAMTS14, EIF4EBP2, C10ORF54, PPA1, H2AFY2, LRRC20, NODAL, PRF1, TYSND1, SAR1A, PSAP, NPFFR1, and C10ORF27

CaseGenotypingMethod: Microarray, homozygosity mapping, haplotype analysis, direct sequencing of exons of SLC29A3

Variant: c.1045delC homozygous

ClinVarID: or CAID: 566/CA351488

gnomAD: The frameshift variant p.Leu349fs, located in exon 6/6, is present in gnomAD v4.0.0 with a MAF=0.000001799 (2/1112010 alleles) in the European Non-Finnish population and 0 homozygotes.

AddCaseInfo: Consanguineous, unaffected parents. 6 unaffected siblings

PreviouslyPublished: n/a

VariantEvidence: Kang et al. (2010; PMID: 20595384) performed functional characterization of the 1045delC mutation in Xenopus oocytes and observed near-total loss of transport activity compared to wildtype SLC29A3. Studies in NIH 3T3 fibroblasts demonstrated mistrafficking of the mutant protein to the endoplasmic reticulum or Gogli apparatus