RBBP7 — 27 ClinVar variants
All ClinVar germline RBBP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Pathogenic · 1 Benign · 1 Likely benign · 24 Uncertain significance
Full RBBP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBBP7 p.Asn259Ser Uncertain significance Single submitter
- RBBP7 p.Asn384Ser Uncertain significance Single submitter
- RBBP7 p.Asn87Ser Uncertain significance Single submitter
- RBBP7 p.Asp414Glu Uncertain significance Single submitter
- RBBP7 p.Glu421Asp Uncertain significance Single submitter
- RBBP7 p.Gly102Ser Uncertain significance Single submitter
- RBBP7 p.Ile16Val Uncertain significance Single submitter
- RBBP7 p.Leu188Met Uncertain significance Single submitter
- RBBP7 p.Leu267Val Uncertain significance Single submitter
- RBBP7 p.Ser284Ile Uncertain significance Single submitter
- RBBP7 p.Ser377Leu Uncertain significance Single submitter
- RBBP7 p.Ser418Pro Uncertain significance Single submitter
- RBBP7 p.Thr272Ala Uncertain significance Single submitter
- RBBP7 p.Thr27Ile Uncertain significance Single submitter
- RBBP7 p.Thr416Met Uncertain significance Single submitter
- RBBP7 p.Thr53Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All RBBP7 variants
Pathogenic 1
- p.Trp401fs No assertion criteria spermatogenic failure, X-linked, 9
Benign 1
- p.Ile22= Single submitter
Likely benign 1
- c.17-341A>C Single submitter
Uncertain significance 24
- c.17-283C>G Single submitter
- c.17-286C>T Single submitter
- c.17-294C>T Single submitter
- c.17-298C>G Single submitter
- c.17-307G>C Single submitter
- c.17-346C>G Single submitter
- p.Arg303Cys Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn384Ser Single submitter ⚠
- p.Asn87Ser Single submitter ⚠
- p.Asp414Glu Single submitter ⚠
- p.Glu421Asp Single submitter ⚠
- p.Gly102Ser Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Leu188Met Single submitter ⚠
- p.Leu267Val Single submitter ⚠
- p.Ser284Ile Single submitter ⚠
- p.Ser377Leu Single submitter ⚠
- p.Ser418Pro Single submitter ⚠
- p.Thr272Ala Single submitter ⚠
- p.Thr27Ala Single submitter
- p.Thr27Ile Single submitter ⚠
- p.Thr416Met Single submitter ⚠
- p.Thr53Ala Single submitter ⚠