ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) (rs587777606)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800475 SCV000940193 pathogenic Charcot-Marie-Tooth disease, type 2 2018-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg265*) in the BSCL2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587777606, ExAC 0.001%). This variant has been observed to be homozygous or on the opposite chromosome (in trans) from other pathogenic variants in individuals affected with BSCL2-related progressive encephalopathy with or without lipodystrophy (PMID: 23564749, 27452399). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as c.985C>T (p.Arg329*) in the literature. ClinVar contains an entry for this variant (Variation ID: 143858). Experimental studies have shown that this nonsense change alters splicing, protein aggregation and oligomerization (PMID: 23564749, 26282322). Loss-of-function variants in BSCL2 are known to be pathogenic (PMID: 11479539). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000412493 SCV001138337 pathogenic Congenital generalized lipodystrophy type 2 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000133397 SCV000188470 pathogenic Encephalopathy, progressive, with or without lipodystrophy 2013-06-01 no assertion criteria provided literature only
GeneReviews RCV000412493 SCV000490142 pathogenic Congenital generalized lipodystrophy type 2 2016-12-08 no assertion criteria provided literature only

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