RICTOR — 142 ClinVar variants

All ClinVar germline RICTOR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

2 Likely pathogenic · 2 Benign · 9 Likely benign · 129 Uncertain significance

Full RICTOR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 122

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RICTOR p.His442Arg Likely pathogenic Single submitter
primary ovarian failure

Predictors lean, ClinVar uncertain 94

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

The independent predictors disagree with each other — read with care.

All RICTOR variants

Likely pathogenic 2

p.Asn1449fs Single submitter Inborn genetic diseases
p.His442Arg Single submitter primary ovarian failure ⚠

Benign 2

p.Asn749= Multiple submitters
p.Ile811= Multiple submitters

Likely benign 9

c.4136+288C>T Single submitter
c.-6G>A Single submitter
p.Ala713Gly Single submitter
p.Arg907Cys Single submitter
p.Asp1393= Single submitter
p.Gly966= Single submitter
p.Leu1537= Single submitter
p.Ser361= Single submitter
p.Thr144= Single submitter

Uncertain significance 129

p.Ala1350Thr Single submitter ⚠
p.Ala146Thr Single submitter ⚠
p.Ala1694Ser Single submitter ⚠
p.Ala246Val Single submitter ⚠
p.Ala472Thr Single submitter ⚠
p.Ala91Thr Single submitter ⚠
p.Ala992Val Single submitter ⚠
p.Arg1195Lys Single submitter ⚠
p.Arg1216Cys Single submitter
p.Arg1299Lys Single submitter ⚠
p.Arg1410Gln Single submitter ⚠
p.Arg1410Pro Single submitter ⚠
p.Arg325Gln Single submitter ⚠
p.Arg336His Single submitter ⚠
p.Arg357Thr Single submitter ⚠
p.Arg380His Single submitter
p.Arg401Cys Single submitter ⚠
p.Arg422Lys Single submitter ⚠
p.Arg468Gln Single submitter ⚠
p.Arg6Cys Single submitter ⚠
p.Arg866Gln Single submitter ⚠
p.Arg873His Single submitter ⚠
p.Arg873Pro Single submitter ⚠
p.Arg910Cys Single submitter ⚠
p.Arg997His Single submitter ⚠
p.Asn12Lys Single submitter ⚠
p.Asn1561His Single submitter ⚠
p.Asn941Ser Single submitter ⚠
p.Asp1006Asn Single submitter ⚠
p.Asp1007His Single submitter ⚠
p.Asp1067Gly Single submitter ⚠
p.Asp1454Gly Single submitter ⚠
p.Asp1603Asn Single submitter ⚠
p.Asp1703His Single submitter ⚠
p.Asp366Val Single submitter ⚠
p.Asp523Ala Single submitter ⚠
p.Asp710Gly Single submitter ⚠
p.Cys1317Ser Single submitter ⚠
p.Cys987Tyr Single submitter ⚠
p.Gln1154Pro Single submitter ⚠
p.Gln118Arg Single submitter ⚠
p.Gln1536fs Single submitter
p.Gln272Pro Single submitter ⚠
p.Gln569His Single submitter ⚠
p.Gln683His Single submitter ⚠
p.Glu1491Lys Single submitter
p.Glu249Asp Single submitter ⚠
p.Glu410Ala Single submitter
p.Glu834Lys Single submitter ⚠
p.Gly5Asp Single submitter ⚠
p.Gly934Ser Single submitter
p.His1662Asn Single submitter ⚠
p.His447Tyr Single submitter ⚠
p.His796Arg Single submitter ⚠
p.His832Tyr Single submitter ⚠
p.His894Arg Single submitter ⚠
p.His988Arg Single submitter ⚠
p.His988Gln Single submitter ⚠
p.Ile116Val Single submitter ⚠
p.Ile1308Val Single submitter ⚠
p.Ile1425Asn Single submitter ⚠
p.Ile1442Ser Single submitter ⚠
p.Ile188Thr Single submitter ⚠
p.Ile211Val Single submitter ⚠
p.Ile376Val Single submitter ⚠
p.Ile502Thr Single submitter ⚠
p.Ile70Thr Single submitter ⚠
p.Leu1183Phe Single submitter ⚠
p.Leu1279Val Single submitter ⚠
p.Leu1489Pro Single submitter
p.Leu550Phe Single submitter ⚠
p.Leu591Val Single submitter ⚠
p.Leu651Phe Single submitter
p.Leu705Phe Single submitter ⚠
p.Leu847Phe Single submitter ⚠
p.Lys1095Asn Single submitter ⚠
p.Lys1448Asn Single submitter ⚠
p.Lys488Gln Single submitter ⚠
p.Lys541Glu Single submitter ⚠
p.Lys957Glu Single submitter ⚠
p.Lys979Arg Single submitter ⚠
p.Met1341Ile Single submitter ⚠
p.Met1381Leu Single submitter ⚠
p.Met321Val Single submitter ⚠
p.Met433Arg Single submitter ⚠
p.Met433Val Single submitter ⚠
p.Met455Thr Single submitter ⚠
p.Phe1503Cys Single submitter ⚠
p.Pro1105Thr Single submitter ⚠
p.Pro1602Ser Single submitter ⚠
p.Pro1700Arg Single submitter ⚠
p.Pro462Thr Single submitter ⚠
p.Pro670Ser Single submitter ⚠
p.Ser1020Gly Single submitter ⚠
p.Ser1043Asn Single submitter ⚠
p.Ser1267Asn Single submitter ⚠
p.Ser1278Pro Single submitter ⚠
p.Ser1324Tyr Single submitter ⚠
p.Ser1348Cys Single submitter ⚠
p.Ser1348Pro Single submitter ⚠
p.Ser1353Ala Single submitter ⚠
p.Ser1370Thr Single submitter ⚠
p.Ser1373Phe Single submitter ⚠
p.Ser1411Thr Single submitter ⚠
p.Ser1470Pro Single submitter ⚠
p.Ser1534Cys Single submitter ⚠
p.Ser1571Leu Single submitter ⚠
p.Ser1588Arg Single submitter ⚠
p.Ser1708Pro Single submitter ⚠
p.Ser352Gly Single submitter ⚠
p.Ser458Phe Single submitter ⚠
p.Thr1029Ser Single submitter ⚠
p.Thr1057Ala Single submitter ⚠
p.Thr1250Ala Single submitter ⚠
p.Thr1361Ile Single submitter ⚠
p.Thr1361Ser Single submitter ⚠
p.Thr230Ile Single submitter ⚠
p.Thr375Asn Single submitter ⚠
p.Thr722Ser Single submitter ⚠
p.Thr891Ala Single submitter ⚠
p.Tyr588Phe Single submitter ⚠
p.Tyr863Cys Single submitter ⚠
p.Val1003Leu Single submitter ⚠
p.Val1241Gly Single submitter ⚠
p.Val1409Leu Single submitter ⚠
p.Val26Ala Single submitter ⚠
p.Val341Ala Single submitter ⚠
p.Val631Ala Single submitter ⚠
p.Val858Leu Single submitter ⚠