ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581186 SCV004282802 uncertain significance Charcot-Marie-Tooth disease type 2 2022-12-14 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BSCL2 mRNA. The next in-frame methionine is located at codon 57. This variant is present in population databases (rs767589914, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. 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.

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