ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1544C>T (p.Ala515Val)

dbSNP: rs1566998962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679967 SCV000807401 uncertain significance Intellectual disability, autosomal dominant 13 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 13-year-old female with congenital arthrogryposis, cataracts, itellectual disability, abnormal tone, seizure, myopathy, dysmorphisms, brain atrophy, obesity, polycystic ovary syndrome, advanced bone age. A more mildly affected sister shared the mutation.
CeGaT Center for Human Genetics Tuebingen RCV000995249 SCV001149330 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing

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