ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])

dbSNP: rs747175358
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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 RCV000800835 SCV000940572 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-17 criteria provided, single submitter clinical testing This variant, c.1113_1118dup, results in the insertion of 2 amino acid(s) of the BSCL2 protein (p.Ser372_Ala373dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 646533). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001772066 SCV002004441 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing In-frame duplication 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002495067 SCV002785071 uncertain significance Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2021-12-20 criteria provided, single submitter clinical testing

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