ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs369149141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061247 SCV001225983 uncertain significance 3-methylglutaconic aciduria, type VIIB 2022-06-12 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 855897). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs369149141, gnomAD 0.002%). This sequence change affects the initiator methionine of the CLPB mRNA. The next in-frame methionine is located at codon 115.

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