ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup)

dbSNP: rs761096481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666466 SCV000790764 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2017-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532052 SCV002974846 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.921_929dup, results in the insertion of 3 amino acid(s) of the MLC1 protein (p.Leu308_Leu310dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with MLC1-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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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