MDC1 — 266 ClinVar variants

All ClinVar germline MDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

3 Pathogenic · 14 Benign · 1 Benign/Likely benign · 47 Likely benign · 201 Uncertain significance

Full MDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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 162

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 162

Predictors split 34

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

All MDC1 variants

Pathogenic 3

p.Arg1882Ter Single submitter oligoasthenoteratozoospermia
p.Arg1993Ter Single submitter oligoasthenoteratozoospermia
p.Met1Leu Single submitter oligoasthenoteratozoospermia

Benign 14

p.Ala333Val Single submitter
p.Arg1299Gln Single submitter
p.Arg1883Gln Single submitter
p.Arg842Ser Single submitter
p.Asn27= Single submitter
p.Glu251Lys Single submitter
p.Gly207_Phe214del Single submitter
p.Gly360= Single submitter
p.Phe2046= Single submitter
p.Ser586Ala Single submitter
p.Thr1201Pro Single submitter
p.Thr1224= Single submitter
p.Thr1891Ala Single submitter
p.Val1203= Single submitter

Benign/Likely benign 1

p.Ser1276= Multiple submitters

Likely benign 47

p.Gln1258= Multiple submitters
p.Leu1207Pro Multiple submitters
p.Thr1261= Multiple submitters
p.Ala1145Val Single submitter
p.Ala1288= Single submitter
p.Ala1847Thr Single submitter
p.Ala1920Val Single submitter
p.Arg1217= Single submitter
p.Arg179His Single submitter
p.Arg1991Gln Single submitter
p.Arg438His Single submitter
p.Arg807Met Single submitter
p.Asn1520His Single submitter ⚠
p.Asp1738Val Single submitter
p.Asp651= Single submitter
p.Asp929Tyr Single submitter
p.Gln1545= Single submitter
p.Gly1085Arg Single submitter
p.Gly225Ser Single submitter
p.Gly855= Single submitter
p.His418Arg Single submitter
p.Ile538Met Single submitter
p.Leu1537Pro Single submitter
p.Lys1519Thr Single submitter
p.Met180Val Single submitter
p.Pro1245= Single submitter
p.Pro1286= Single submitter
p.Pro1693= Single submitter
p.Pro1693Leu Single submitter
p.Pro1793Ala Single submitter
p.Pro228Ser Single submitter
p.Ser1194= Single submitter
p.Ser1221Pro Single submitter
p.Ser1878Asn Single submitter
p.Thr1109Pro Single submitter
p.Thr1121= Single submitter
p.Thr1121Ser Single submitter
p.Thr1179= Single submitter
p.Thr1215= Single submitter
p.Thr1246Ile Single submitter
p.Thr1406Pro Single submitter
p.Thr1514Ala Single submitter
p.Thr1817Ile Single submitter
p.Thr98= Single submitter
p.Val1244= Single submitter
p.Val31Leu Single submitter
p.Val984Ile Single submitter

Uncertain significance 201

p.Ala1017Thr Single submitter ⚠
p.Ala1045Val Single submitter ⚠
p.Ala1134Thr Single submitter ⚠
p.Ala1774Thr Single submitter ⚠
p.Ala1785Val Single submitter ⚠
p.Ala1940Val Single submitter ⚠
p.Ala1986Thr Single submitter ⚠
p.Ala213Thr Single submitter ⚠
p.Ala278Thr Single submitter ⚠
p.Ala321Ser Single submitter ⚠
p.Ala385Val Single submitter ⚠
p.Ala425Val Single submitter ⚠
p.Ala570Gly Single submitter ⚠
p.Ala581Glu Single submitter ⚠
p.Ala710Val Single submitter ⚠
p.Arg1021Lys Single submitter ⚠
p.Arg1079His Single submitter ⚠
p.Arg114His Single submitter ⚠
p.Arg1231Ser Single submitter ⚠
p.Arg1292Trp Single submitter ⚠
p.Arg1311Lys Single submitter ⚠
p.Arg132His Single submitter ⚠
p.Arg132Leu Single submitter ⚠
p.Arg1390Trp Single submitter ⚠
p.Arg1513Gln Single submitter ⚠
p.Arg1521Trp Single submitter ⚠
p.Arg1554Trp Single submitter ⚠
p.Arg1559Lys Single submitter ⚠
p.Arg1595Gln Single submitter ⚠
p.Arg161Lys Single submitter ⚠
p.Arg1644Lys Single submitter ⚠
p.Arg1811His Single submitter ⚠
p.Arg1866Lys Single submitter ⚠
p.Arg1879Cys Single submitter ⚠
p.Arg1882Gln Single submitter ⚠
p.Arg1907Gln Single submitter ⚠
p.Arg1932Cys Single submitter
p.Arg1932His Single submitter
p.Arg1957Cys Single submitter ⚠
p.Arg1957His Single submitter ⚠
p.Arg1993Gln Single submitter ⚠
p.Arg2031Gln Single submitter ⚠
p.Arg2031Pro Single submitter
p.Arg2054Trp Single submitter ⚠
p.Arg276Lys Single submitter ⚠
p.Arg276Thr Single submitter ⚠
p.Arg337Ser Single submitter ⚠
p.Arg359Met Single submitter ⚠
p.Arg438Cys Single submitter ⚠
p.Arg674Lys Single submitter ⚠
p.Arg944Gly Single submitter ⚠
p.Arg948Ser Single submitter ⚠
p.Asn1438Ile Single submitter ⚠
p.Asn1978His Single submitter ⚠
p.Asp1966Val Single submitter
p.Asp328Gly Single submitter ⚠
p.Asp580Asn Single submitter ⚠
p.Asp716Asn Single submitter ⚠
p.Asp91Gly Single submitter ⚠
p.Cys2021Gly Single submitter ⚠
p.Gln1135Leu Single submitter ⚠
p.Gln1144Pro Single submitter ⚠
p.Gln118Glu Single submitter ⚠
p.Gln1210Arg Single submitter ⚠
p.Gln1258Lys Single submitter ⚠
p.Gln1381Lys Single submitter ⚠
p.Gln1456Arg Single submitter ⚠
p.Gln1868Arg Single submitter ⚠
p.Gln437Arg Single submitter ⚠
p.Glu1024Val Single submitter ⚠
p.Glu1167Gln Single submitter ⚠
p.Glu1405Gly Single submitter ⚠
p.Glu1446Lys Single submitter ⚠
p.Glu1495Lys Single submitter ⚠
p.Glu1765Lys Single submitter ⚠
p.Glu1841Lys Single submitter ⚠
p.Glu1848Asp Single submitter ⚠
p.Glu1889Lys Single submitter ⚠
p.Glu249Asp Single submitter ⚠
p.Glu421Asp Single submitter ⚠
p.Glu458Asp Single submitter ⚠
p.Glu609Lys Single submitter ⚠
p.Glu745Val Single submitter ⚠
p.Glu819Lys Single submitter ⚠
p.Glu822Lys Single submitter ⚠
p.Gly1230Glu Single submitter ⚠
p.Gly325Ser Single submitter ⚠
p.Gly375Asp Single submitter ⚠
p.Gly375Val Single submitter ⚠
p.Gly52Arg Single submitter ⚠
p.Gly547Glu Single submitter ⚠
p.Gly575Arg Single submitter ⚠
p.Gly679Cys Single submitter ⚠
p.Gly815Asp Single submitter ⚠
p.His1128Tyr Single submitter ⚠
p.His354Arg Single submitter ⚠
p.His354Pro Single submitter ⚠
p.His474Arg Single submitter ⚠
p.Ile1770Val Single submitter ⚠
p.Ile1931Val Single submitter ⚠
p.Ile338Phe Single submitter ⚠
p.Leu1094Met Single submitter ⚠
p.Leu1250Phe Single submitter ⚠
p.Leu1250Pro Single submitter ⚠
p.Leu1455Phe Single submitter ⚠
p.Leu1633Phe Single submitter ⚠
p.Leu1916Pro Single submitter ⚠
p.Leu208Val Single submitter ⚠
p.Leu419Met Single submitter ⚠
p.Leu442Gln Single submitter ⚠
p.Leu51Val Single submitter ⚠
p.Leu708Pro Single submitter ⚠
p.Leu772Pro Single submitter ⚠
p.Lys1345Arg Single submitter ⚠
p.Lys1812Glu Single submitter ⚠
p.Lys913Arg Single submitter ⚠
p.Met1115Ile Single submitter ⚠
p.Met2014Ile Single submitter ⚠
p.Met714Thr Single submitter ⚠
p.Met723Val Single submitter ⚠
p.Met800Thr Single submitter ⚠
p.Phe214Val Single submitter ⚠
p.Pro1034Ser Single submitter ⚠
p.Pro1048Ala Single submitter ⚠
p.Pro1064Leu Single submitter ⚠
p.Pro109Ser Single submitter ⚠
p.Pro1330Leu Single submitter ⚠
p.Pro1344Leu Single submitter ⚠
p.Pro1346Leu Single submitter ⚠
p.Pro1426Thr Single submitter ⚠
p.Pro1457Ala Single submitter ⚠
p.Pro1491Ser Single submitter ⚠
p.Pro1551Leu Single submitter ⚠
p.Pro1609Leu Single submitter ⚠
p.Pro1621Leu Single submitter ⚠
p.Pro1662Thr Single submitter ⚠
p.Pro1693Ser Single submitter ⚠
p.Pro1748Arg Single submitter ⚠
p.Pro1748Leu Single submitter ⚠
p.Pro1822Ser Single submitter ⚠
p.Pro1964Ser Single submitter ⚠
p.Pro1965Leu Single submitter
p.Pro2027Ala Single submitter ⚠
p.Pro364Leu Single submitter ⚠
p.Pro777Thr Single submitter ⚠
p.Pro922Gln Single submitter ⚠
p.Pro977Leu Single submitter ⚠
p.Ser1033Phe Single submitter ⚠
p.Ser1173Thr Single submitter ⚠
p.Ser1353Asn Single submitter ⚠
p.Ser1583Phe Single submitter ⚠
p.Ser1635Phe Single submitter ⚠
p.Ser1711Phe Single submitter ⚠
p.Ser1711Tyr Single submitter ⚠
p.Ser1810Gly Single submitter ⚠
p.Ser1915Gly Single submitter ⚠
p.Ser1982Arg Single submitter
p.Ser1988Thr Single submitter ⚠
p.Ser2050Cys Single submitter ⚠
p.Ser504Asn Single submitter ⚠
p.Ser516Pro Single submitter ⚠
p.Ser684Cys Single submitter ⚠
p.Ser733Phe Single submitter ⚠
p.Ser880Asn Single submitter ⚠
p.Ser882Asn Single submitter ⚠
p.Ser897Phe Single submitter ⚠
p.Thr1142Ala Single submitter ⚠
p.Thr1142Pro Single submitter ⚠
p.Thr1174Ala Single submitter ⚠
p.Thr1287Ile Single submitter ⚠
p.Thr1295Ala Single submitter ⚠
p.Thr1343Ala Single submitter ⚠
p.Thr1406Arg Single submitter ⚠
p.Thr1433Ile Single submitter ⚠
p.Thr1470Ser Single submitter ⚠
p.Thr1623Pro Single submitter ⚠
p.Thr1625Ala Single submitter ⚠
p.Thr1634Ile Single submitter ⚠
p.Thr1642Pro Single submitter ⚠
p.Thr1688Ile Single submitter ⚠
p.Thr1697Ser Single submitter ⚠
p.Thr1716Ile Single submitter ⚠
p.Thr2089Ala Single submitter ⚠
p.Thr341Ala Single submitter ⚠
p.Thr415Pro Single submitter ⚠
p.Thr654Ile Single submitter ⚠
p.Thr770Met Single submitter ⚠
p.Thr980Ile Single submitter ⚠
p.Trp747Arg Single submitter ⚠
p.Trp9Arg Single submitter ⚠
p.Val111Met Single submitter ⚠
p.Val1202Ile Single submitter ⚠
p.Val1285Met Single submitter ⚠
p.Val1465Leu Single submitter ⚠
p.Val1531Met Single submitter ⚠
p.Val1612Ile Single submitter ⚠
p.Val1612Phe Single submitter ⚠
p.Val1837Met Single submitter ⚠
p.Val1935Asp Single submitter ⚠
p.Val439Leu Single submitter ⚠
p.Val997Leu Single submitter ⚠