ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)

gnomAD frequency: 0.00002  dbSNP: rs138515091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335244 SCV001528346 uncertain significance Severe neurodegenerative syndrome with lipodystrophy 2018-07-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001388949 SCV001590127 pathogenic Charcot-Marie-Tooth disease type 2 2024-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg390*) in the BSCL2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the BSCL2 protein. This variant is present in population databases (rs138515091, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032980). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the BSCL2 protein in which other variant(s) (p.Gln391*) have been determined to be pathogenic (PMID: 19226263, 24024128). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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