ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val)

dbSNP: rs398123609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079667 SCV000111550 uncertain significance not provided 2012-08-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679865 SCV000807232 uncertain significance DPAGT1-congenital disorder of glycosylation 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in a homozygous state in a 1-month-old female with IUGR, abnormal movements, dysmorphisms, contractures, structural brain abnormalities, eye anomalies, skeletal abnormalities, limb malformations. Biochemical studies consistent with disorder of glycosylation

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