ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)

dbSNP: rs758843908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851654 SCV002245451 pathogenic Charcot-Marie-Tooth disease type 2 2021-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr213Thrfs*20) in the BSCL2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BSCL2 are known to be pathogenic (PMID: 11479539, 23564749). This variant is present in population databases (rs758843908, ExAC 0.01%). This variant has been observed in individual(s) with Berardinelli–Seip congenital lipodystrophy (PMID: 11479539, 23659685). This variant is also known as c.980delC (p.F213fsX232) in the literature. ClinVar contains an entry for this variant (Variation ID: 4540).
OMIM RCV000004798 SCV000024974 pathogenic Congenital generalized lipodystrophy type 2 2001-08-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003311643 SCV004011986 uncertain significance Berardinelli-Seip congenital lipodystrophy 2016-01-06 no assertion criteria provided literature only

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