ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) (rs137852975)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196081 SCV000253962 pathogenic Charcot-Marie-Tooth disease, type 2 2015-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 189 (p.Glu189*). It is expected to result in an absent or disrupted protein product. This variant has been reported in the literature and is not present in population databases. This variant has been reported as homozygous (PMID: 18057387, 19041432) and as compound heterozygous (PMID: 24778225) with pathogenic BSCL2 variant in individuals with Berardinelli-Seip congenital lipodystrophy. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004805 SCV000024981 pathogenic Congenital generalized lipodystrophy type 2 2009-01-01 no assertion criteria provided literature only

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