ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.492+4_492+7del (rs1057518715)

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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 RCV000414842 SCV000328833 uncertain significance Congenital generalized lipodystrophy type 1 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in AGPAT2 (NM_006412.3:c.503G>A; NM_006412.3:c.492+4_492+7delAGTG; in trans) and OBSL1 (NM_015311.2:c.2474delT; NM_015311.2:c.3955C>T; in trans) in an individual with failure to thrive, hepatosplenomegaly, hypertriglyceridemia, dyslipidemia, elevated transaminases, non-specific lysosomal inclusions on liver biopsy and short stature.

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