ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.631-1G>C

dbSNP: rs1057524896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445443 SCV000537083 pathogenic Monogenic diabetes 2015-10-16 criteria provided, single submitter research ACMG Criteria:PVS1, PM2, PP3=Pathogenic; Jeninga et al 2011 JIMD reported a similar variant c.631-2A>C in homozygous state in a 7 yo boy with BSCL. RT-PCR showed loss of full length transcript and presenece of two aberrant transcript. Protein localized normally. Therefore, the c.631-1G>C variant would be consistent with a pathogenic vaiant for a recessive discorder and this patient would be a carrier.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796180 SCV005415797 likely pathogenic Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PM3_Supporting+PP4

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