ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)

dbSNP: rs556562410
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862805 SCV001003359 likely benign Charcot-Marie-Tooth disease type 2 2025-01-01 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174399 SCV001337537 uncertain significance Monogenic diabetes 2018-01-05 criteria provided, single submitter research ACMG criteria: PM4 (nonframeshift)=VUS
Ambry Genetics RCV002345950 SCV002653293 likely benign Inborn genetic diseases 2021-11-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
New York Genome Center RCV002468078 SCV002764375 uncertain significance Congenital generalized lipodystrophy type 2 2022-02-10 criteria provided, single submitter clinical testing
GeneDx RCV003442125 SCV004167963 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002468078 SCV004698138 uncertain risk allele Congenital generalized lipodystrophy type 2 criteria provided, single submitter research Potent mutations in BSCL2 gene are associated with Congenital generalized lipodystrophy, type 2, which can present with insulin resistance, fatty liver and diabetes.However, the role of this particular variant rs556562410 of Congenital Generalized Lipodystrophy type 2 remains uncertain
Mayo Clinic Laboratories, Mayo Clinic RCV003442125 SCV005412348 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing BS1, PM4

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