ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)

dbSNP: rs1057518704
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415182 SCV000328813 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2015-08-24 no assertion criteria provided clinical testing Our lab has reported dual molecular diagnoses of MED13L (NM_015335.4, c.4956-2A>C) and HUWE1 (NM_031407.5, c.3239G>A) for this individual with developmental delay, intellectual disability, and right club foot. New evidence suggests that haploinsufficiency of MED13L can cause intellectual disability, developmental delay, facial abnormalities, hypotonia, and autism.

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